Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48904529_48904813delinsCCTCCCGCA2573055342SLC35A2c.1096_1163+217delinsCGGGAGG
c.434_*61delinsCGGGAGG (n.[c.434_*61delinsCGGGAGG;Arg145ProfsTer?])
c.1096_*198delinsCGGGAGG (n.[c.1096_*198delinsCGGGAGG;Gly366ArgfsTer11])
c.506_573+217delinsCGGGAGG
c.658_942delinsCGGGAGG
c.506_*61delinsCGGGAGG (n.[c.506_*61delinsCGGGAGG;Arg169ProfsTer?])
c.1180_*198delinsCGGGAGG (n.[c.1180_*198delinsCGGGAGG;Gly394ArgfsTer11])
c.1135_*198delinsCGGGAGG (n.[c.1135_*198delinsCGGGAGG;Gly379ArgfsTer11])
c.425-1348_425-1064delinsCGGGAGG
c.913_*198delinsCGGGAGG (n.[c.913_*198delinsCGGGAGG;Gly305ArgfsTer11])
c.*990_*1274delinsCGGGAGG (n.*990_*1274delinsCGGGAGG)
 ClinVar dbSNP
Xg.48904753G>ACA412893960SLC35A2c.1156C>T (p.Leu386=)
c.494C>T (p.Ser165Phe)
c.566C>T (p.Ser189Phe)
c.718C>T
c.1240C>T (p.Leu414=)
c.1195C>T (p.Leu399=)
c.425-1288C>T
c.973C>T (p.Leu325=)
c.*1050C>T (n.*1050C>T)
 ClinVar dbSNP gnomAD v4
Xg.48904753G>CCA412893961SLC35A2c.1156C>G (p.Leu386Val)
c.494C>G (p.Ser165Cys)
c.566C>G (p.Ser189Cys)
c.718C>G
c.1240C>G (p.Leu414Val)
c.1195C>G (p.Leu399Val)
c.425-1288C>G
c.973C>G (p.Leu325Val)
c.*1050C>G (n.*1050C>G)
Xg.48904753G=CA2428428762SLC35A2c.1156C= (p.Leu386=)
c.494C= (p.Ser165=)
c.566C= (p.Ser189=)
c.718C=
c.1240C= (p.Leu414=)
c.1195C= (p.Leu399=)
c.425-1288C=
c.973C= (p.Leu325=)
c.*1050C= (n.*1050C=)
Xg.48904753G>TCA412893962SLC35A2c.1156C>A (p.Leu386Met)
c.494C>A (p.Ser165Tyr)
c.566C>A (p.Ser189Tyr)
c.718C>A
c.1240C>A (p.Leu414Met)
c.1195C>A (p.Leu399Met)
c.425-1288C>A
c.973C>A (p.Leu325Met)
c.*1050C>A (n.*1050C>A)
Xg.48904754A>CCA412893963SLC35A2c.1155T>G (p.Phe385Leu)
c.493T>G (p.Ser165Ala)
c.565T>G (p.Ser189Ala)
c.717T>G
c.1239T>G (p.Phe413Leu)
c.1194T>G (p.Phe398Leu)
c.425-1289T>G
c.972T>G (p.Phe324Leu)
c.*1049T>G (n.*1049T>G)
Xg.48904754A>GCA412893964SLC35A2c.1155T>C (p.Phe385=)
c.493T>C (p.Ser165Pro)
c.565T>C (p.Ser189Pro)
c.717T>C
c.1239T>C (p.Phe413=)
c.1194T>C (p.Phe398=)
c.425-1289T>C
c.972T>C (p.Phe324=)
c.*1049T>C (n.*1049T>C)
Xg.48904754A>TCA412893965SLC35A2c.1155T>A (p.Phe385Leu)
c.493T>A (p.Ser165Thr)
c.565T>A (p.Ser189Thr)
c.717T>A
c.1239T>A (p.Phe413Leu)
c.1194T>A (p.Phe398Leu)
c.425-1289T>A
c.972T>A (p.Phe324Leu)
c.*1049T>A (n.*1049T>A)
Xg.48904755A>CCA412893968SLC35A2c.1154T>G (p.Phe385Cys)
c.492T>G (p.Leu164=)
c.564T>G (p.Leu188=)
c.716T>G
c.1238T>G (p.Phe413Cys)
c.1193T>G (p.Phe398Cys)
c.425-1290T>G
c.971T>G (p.Phe324Cys)
c.*1048T>G (n.*1048T>G)
Xg.48904755A>GCA412893966SLC35A2c.1154T>C (p.Phe385Ser)
c.492T>C (p.Leu164=)
c.564T>C (p.Leu188=)
c.716T>C
c.1238T>C (p.Phe413Ser)
c.1193T>C (p.Phe398Ser)
c.425-1290T>C
c.971T>C (p.Phe324Ser)
c.*1048T>C (n.*1048T>C)
Xg.48904755A>TCA412893967SLC35A2c.1154T>A (p.Phe385Tyr)
c.492T>A (p.Leu164=)
c.564T>A (p.Leu188=)
c.716T>A
c.1238T>A (p.Phe413Tyr)
c.1193T>A (p.Phe398Tyr)
c.425-1290T>A
c.971T>A (p.Phe324Tyr)
c.*1048T>A (n.*1048T>A)
Xg.48904756A>CCA412893969SLC35A2c.1153T>G (p.Phe385Val)
c.491T>G (p.Leu164Arg)
c.563T>G (p.Leu188Arg)
c.715T>G
c.1237T>G (p.Phe413Val)
c.1192T>G (p.Phe398Val)
c.425-1291T>G
c.970T>G (p.Phe324Val)
c.*1047T>G (n.*1047T>G)
Xg.48904756A>GCA412893970SLC35A2c.1153T>C (p.Phe385Leu)
c.491T>C (p.Leu164Pro)
c.563T>C (p.Leu188Pro)
c.715T>C
c.1237T>C (p.Phe413Leu)
c.1192T>C (p.Phe398Leu)
c.425-1291T>C
c.970T>C (p.Phe324Leu)
c.*1047T>C (n.*1047T>C)
Xg.48904756A>TCA412893971SLC35A2c.1153T>A (p.Phe385Ile)
c.491T>A (p.Leu164His)
c.563T>A (p.Leu188His)
c.715T>A
c.1237T>A (p.Phe413Ile)
c.1192T>A (p.Phe398Ile)
c.425-1291T>A
c.970T>A (p.Phe324Ile)
c.*1047T>A (n.*1047T>A)
Xg.48904757G>ACA412893972SLC35A2c.1152C>T (p.Pro384=)
c.490C>T (p.Leu164Phe)
c.562C>T (p.Leu188Phe)
c.714C>T
c.1236C>T (p.Pro412=)
c.1191C>T (p.Pro397=)
c.425-1292C>T
c.969C>T (p.Pro323=)
c.*1046C>T (n.*1046C>T)
Xg.48904757G>CCA412893973SLC35A2c.1152C>G (p.Pro384=)
c.490C>G (p.Leu164Val)
c.562C>G (p.Leu188Val)
c.714C>G
c.1236C>G (p.Pro412=)
c.1191C>G (p.Pro397=)
c.425-1292C>G
c.969C>G (p.Pro323=)
c.*1046C>G (n.*1046C>G)
Xg.48904757G>TCA412893974SLC35A2c.1152C>A (p.Pro384=)
c.490C>A (p.Leu164Ile)
c.562C>A (p.Leu188Ile)
c.714C>A
c.1236C>A (p.Pro412=)
c.1191C>A (p.Pro397=)
c.425-1292C>A
c.969C>A (p.Pro323=)
c.*1046C>A (n.*1046C>A)
Xg.48904758G>ACA412893975SLC35A2c.1151C>T (p.Pro384Leu)
c.489C>T (p.Ala163=)
c.561C>T (p.Ala187=)
c.713C>T
c.1235C>T (p.Pro412Leu)
c.1190C>T (p.Pro397Leu)
c.425-1293C>T
c.968C>T (p.Pro323Leu)
c.*1045C>T (n.*1045C>T)
 gnomAD v4
Xg.48904758G>CCA412893977SLC35A2c.1151C>G (p.Pro384Arg)
c.489C>G (p.Ala163=)
c.561C>G (p.Ala187=)
c.713C>G
c.1235C>G (p.Pro412Arg)
c.1190C>G (p.Pro397Arg)
c.425-1293C>G
c.968C>G (p.Pro323Arg)
c.*1045C>G (n.*1045C>G)
Xg.48904758G>TCA412893976SLC35A2c.1151C>A (p.Pro384His)
c.489C>A (p.Ala163=)
c.561C>A (p.Ala187=)
c.713C>A
c.1235C>A (p.Pro412His)
c.1190C>A (p.Pro397His)
c.425-1293C>A
c.968C>A (p.Pro323His)
c.*1045C>A (n.*1045C>A)
Xg.48904759G>ACA412893978SLC35A2c.1150C>T (p.Pro384Ser)
c.488C>T (p.Ala163Val)
c.560C>T (p.Ala187Val)
c.712C>T
c.1234C>T (p.Pro412Ser)
c.1189C>T (p.Pro397Ser)
c.425-1294C>T
c.967C>T (p.Pro323Ser)
c.*1044C>T (n.*1044C>T)
Xg.48904759G>CCA412893979SLC35A2c.1150C>G (p.Pro384Ala)
c.488C>G (p.Ala163Gly)
c.560C>G (p.Ala187Gly)
c.712C>G
c.1234C>G (p.Pro412Ala)
c.1189C>G (p.Pro397Ala)
c.425-1294C>G
c.967C>G (p.Pro323Ala)
c.*1044C>G (n.*1044C>G)
Xg.48904759G>TCA412893980SLC35A2c.1150C>A (p.Pro384Thr)
c.488C>A (p.Ala163Asp)
c.560C>A (p.Ala187Asp)
c.712C>A
c.1234C>A (p.Pro412Thr)
c.1189C>A (p.Pro397Thr)
c.425-1294C>A
c.967C>A (p.Pro323Thr)
c.*1044C>A (n.*1044C>A)
 gnomAD v4
Xg.48904760C>ACA412893981SLC35A2c.1149G>T (p.Glu383Asp)
c.487G>T (p.Ala163Ser)
c.559G>T (p.Ala187Ser)
c.711G>T
c.1233G>T (p.Glu411Asp)
c.1188G>T (p.Glu396Asp)
c.425-1295G>T
c.966G>T (p.Glu322Asp)
c.*1043G>T (n.*1043G>T)
Xg.48904760C=CA2428428763SLC35A2c.1149G= (p.Glu383=)
c.487G= (p.Ala163=)
c.559G= (p.Ala187=)
c.711G=
c.1233G= (p.Glu411=)
c.1188G= (p.Glu396=)
c.425-1295G=
c.966G= (p.Glu322=)
c.*1043G= (n.*1043G=)
Xg.48904760C>GCA412893982SLC35A2c.1149G>C (p.Glu383Asp)
c.487G>C (p.Ala163Pro)
c.559G>C (p.Ala187Pro)
c.711G>C
c.1233G>C (p.Glu411Asp)
c.1188G>C (p.Glu396Asp)
c.425-1295G>C
c.966G>C (p.Glu322Asp)
c.*1043G>C (n.*1043G>C)
Xg.48904760C>TCA412893983SLC35A2c.1149G>A (p.Glu383=)
c.487G>A (p.Ala163Thr)
c.559G>A (p.Ala187Thr)
c.711G>A
c.1233G>A (p.Glu411=)
c.1188G>A (p.Glu396=)
c.425-1295G>A
c.966G>A (p.Glu322=)
c.*1043G>A (n.*1043G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904761T>ACA412893984SLC35A2c.1148A>T (p.Glu383Val)
c.486A>T (p.Gly162=)
c.558A>T (p.Gly186=)
c.710A>T
c.1232A>T (p.Glu411Val)
c.1187A>T (p.Glu396Val)
c.425-1296A>T
c.965A>T (p.Glu322Val)
c.*1042A>T (n.*1042A>T)
Xg.48904761T>CCA412893985SLC35A2c.1148A>G (p.Glu383Gly)
c.486A>G (p.Gly162=)
c.558A>G (p.Gly186=)
c.710A>G
c.1232A>G (p.Glu411Gly)
c.1187A>G (p.Glu396Gly)
c.425-1296A>G
c.965A>G (p.Glu322Gly)
c.*1042A>G (n.*1042A>G)
Xg.48904761T>GCA412893986SLC35A2c.1148A>C (p.Glu383Ala)
c.486A>C (p.Gly162=)
c.558A>C (p.Gly186=)
c.710A>C
c.1232A>C (p.Glu411Ala)
c.1187A>C (p.Glu396Ala)
c.425-1296A>C
c.965A>C (p.Glu322Ala)
c.*1042A>C (n.*1042A>C)
Xg.48904762C>ACA412893987SLC35A2c.1147G>T (p.Glu383Ter)
c.485G>T (p.Gly162Val)
c.557G>T (p.Gly186Val)
c.709G>T
c.1231G>T (p.Glu411Ter)
c.1186G>T (p.Glu396Ter)
c.425-1297G>T
c.964G>T (p.Glu322Ter)
c.*1041G>T (n.*1041G>T)
Xg.48904762C>GCA412893988SLC35A2c.1147G>C (p.Glu383Gln)
c.485G>C (p.Gly162Ala)
c.557G>C (p.Gly186Ala)
c.709G>C
c.1231G>C (p.Glu411Gln)
c.1186G>C (p.Glu396Gln)
c.425-1297G>C
c.964G>C (p.Glu322Gln)
c.*1041G>C (n.*1041G>C)
Xg.48904762C>TCA412893989SLC35A2c.1147G>A (p.Glu383Lys)
c.485G>A (p.Gly162Glu)
c.557G>A (p.Gly186Glu)
c.709G>A
c.1231G>A (p.Glu411Lys)
c.1186G>A (p.Glu396Lys)
c.425-1297G>A
c.964G>A (p.Glu322Lys)
c.*1041G>A (n.*1041G>A)
 ClinVar gnomAD v4
Xg.48904763C>ACA412893990SLC35A2c.1146G>T (p.Thr382=)
c.484G>T (p.Gly162Ter)
c.556G>T (p.Gly186Ter)
c.708G>T
c.1230G>T (p.Thr410=)
c.1185G>T (p.Thr395=)
c.425-1298G>T
c.963G>T (p.Thr321=)
c.*1040G>T (n.*1040G>T)
Xg.48904763C=CA2428428764SLC35A2c.1146G= (p.Thr382=)
c.484G= (p.Gly162=)
c.556G= (p.Gly186=)
c.708G=
c.1230G= (p.Thr410=)
c.1185G= (p.Thr395=)
c.425-1298G=
c.963G= (p.Thr321=)
c.*1040G= (n.*1040G=)
Xg.48904763C>GCA412893991SLC35A2c.1146G>C (p.Thr382=)
c.484G>C (p.Gly162Arg)
c.556G>C (p.Gly186Arg)
c.708G>C
c.1230G>C (p.Thr410=)
c.1185G>C (p.Thr395=)
c.425-1298G>C
c.963G>C (p.Thr321=)
c.*1040G>C (n.*1040G>C)
 gnomAD v4
Xg.48904763C>TCA10406047SLC35A2c.1146G>A (p.Thr382=)
c.484G>A (p.Gly162Arg)
c.556G>A (p.Gly186Arg)
c.708G>A
c.1230G>A (p.Thr410=)
c.1185G>A (p.Thr395=)
c.425-1298G>A
c.963G>A (p.Thr321=)
c.*1040G>A (n.*1040G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904764G>ACA10406048SLC35A2c.1145C>T (p.Thr382Met)
c.483C>T (p.His161=)
c.555C>T (p.His185=)
c.707C>T
c.1229C>T (p.Thr410Met)
c.1184C>T (p.Thr395Met)
c.425-1299C>T
c.962C>T (p.Thr321Met)
c.*1039C>T (n.*1039C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904764G>CCA412893992SLC35A2c.1145C>G (p.Thr382Arg)
c.483C>G (p.His161Gln)
c.555C>G (p.His185Gln)
c.707C>G
c.1229C>G (p.Thr410Arg)
c.1184C>G (p.Thr395Arg)
c.425-1299C>G
c.962C>G (p.Thr321Arg)
c.*1039C>G (n.*1039C>G)
Xg.48904764G=CA2428428765SLC35A2c.1145C= (p.Thr382=)
c.483C= (p.His161=)
c.555C= (p.His185=)
c.707C=
c.1229C= (p.Thr410=)
c.1184C= (p.Thr395=)
c.425-1299C=
c.962C= (p.Thr321=)
c.*1039C= (n.*1039C=)
Xg.48904764G>TCA412893993SLC35A2c.1145C>A (p.Thr382Lys)
c.483C>A (p.His161Gln)
c.555C>A (p.His185Gln)
c.707C>A
c.1229C>A (p.Thr410Lys)
c.1184C>A (p.Thr395Lys)
c.425-1299C>A
c.962C>A (p.Thr321Lys)
c.*1039C>A (n.*1039C>A)
Xg.48904765T>ACA412893994SLC35A2c.1144A>T (p.Thr382Ser)
c.482A>T (p.His161Leu)
c.554A>T (p.His185Leu)
c.706A>T
c.1228A>T (p.Thr410Ser)
c.1183A>T (p.Thr395Ser)
c.425-1300A>T
c.961A>T (p.Thr321Ser)
c.*1038A>T (n.*1038A>T)
Xg.48904765T>CCA412893995SLC35A2c.1144A>G (p.Thr382Ala)
c.482A>G (p.His161Arg)
c.554A>G (p.His185Arg)
c.706A>G
c.1228A>G (p.Thr410Ala)
c.1183A>G (p.Thr395Ala)
c.425-1300A>G
c.961A>G (p.Thr321Ala)
c.*1038A>G (n.*1038A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.48904765T>GCA412893996SLC35A2c.1144A>C (p.Thr382Pro)
c.482A>C (p.His161Pro)
c.554A>C (p.His185Pro)
c.706A>C
c.1228A>C (p.Thr410Pro)
c.1183A>C (p.Thr395Pro)
c.425-1300A>C
c.961A>C (p.Thr321Pro)
c.*1038A>C (n.*1038A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.48904765T=CA2428428766SLC35A2c.1144A= (p.Thr382=)
c.482A= (p.His161=)
c.554A= (p.His185=)
c.706A=
c.1228A= (p.Thr410=)
c.1183A= (p.Thr395=)
c.425-1300A=
c.961A= (p.Thr321=)
c.*1038A= (n.*1038A=)
Xg.48904766G>ACA412893997SLC35A2c.1143C>T (p.Ile381=)
c.481C>T (p.His161Tyr)
c.553C>T (p.His185Tyr)
c.705C>T
c.1227C>T (p.Ile409=)
c.1182C>T (p.Ile394=)
c.425-1301C>T
c.960C>T (p.Ile320=)
c.*1037C>T (n.*1037C>T)
Xg.48904766G>CCA412893998SLC35A2c.1143C>G (p.Ile381Met)
c.481C>G (p.His161Asp)
c.553C>G (p.His185Asp)
c.705C>G
c.1227C>G (p.Ile409Met)
c.1182C>G (p.Ile394Met)
c.425-1301C>G
c.960C>G (p.Ile320Met)
c.*1037C>G (n.*1037C>G)
Xg.48904766G>TCA412893999SLC35A2c.1143C>A (p.Ile381=)
c.481C>A (p.His161Asn)
c.553C>A (p.His185Asn)
c.705C>A
c.1227C>A (p.Ile409=)
c.1182C>A (p.Ile394=)
c.425-1301C>A
c.960C>A (p.Ile320=)
c.*1037C>A (n.*1037C>A)
Xg.48904767A>CCA412894000SLC35A2c.1142T>G (p.Ile381Ser)
c.480T>G (p.His160Gln)
c.552T>G (p.His184Gln)
c.704T>G
c.1226T>G (p.Ile409Ser)
c.1181T>G (p.Ile394Ser)
c.425-1302T>G
c.959T>G (p.Ile320Ser)
c.*1036T>G (n.*1036T>G)
Xg.48904767A>GCA412894001SLC35A2c.1142T>C (p.Ile381Thr)
c.480T>C (p.His160=)
c.552T>C (p.His184=)
c.704T>C
c.1226T>C (p.Ile409Thr)
c.1181T>C (p.Ile394Thr)
c.425-1302T>C
c.959T>C (p.Ile320Thr)
c.*1036T>C (n.*1036T>C)
Xg.48904767A>TCA412894002SLC35A2c.1142T>A (p.Ile381Asn)
c.480T>A (p.His160Gln)
c.552T>A (p.His184Gln)
c.704T>A
c.1226T>A (p.Ile409Asn)
c.1181T>A (p.Ile394Asn)
c.425-1302T>A
c.959T>A (p.Ile320Asn)
c.*1036T>A (n.*1036T>A)
Xg.48904768T>ACA412894005SLC35A2c.1141A>T (p.Ile381Phe)
c.479A>T (p.His160Leu)
c.551A>T (p.His184Leu)
c.703A>T
c.1225A>T (p.Ile409Phe)
c.1180A>T (p.Ile394Phe)
c.425-1303A>T
c.958A>T (p.Ile320Phe)
c.*1035A>T (n.*1035A>T)
Xg.48904768T>CCA412894004SLC35A2c.1141A>G (p.Ile381Val)
c.479A>G (p.His160Arg)
c.551A>G (p.His184Arg)
c.703A>G
c.1225A>G (p.Ile409Val)
c.1180A>G (p.Ile394Val)
c.425-1303A>G
c.958A>G (p.Ile320Val)
c.*1035A>G (n.*1035A>G)
 COSMIC COSMIC COSMIC COSMIC
Xg.48904768T>GCA412894003SLC35A2c.1141A>C (p.Ile381Leu)
c.479A>C (p.His160Pro)
c.551A>C (p.His184Pro)
c.703A>C
c.1225A>C (p.Ile409Leu)
c.1180A>C (p.Ile394Leu)
c.425-1303A>C
c.958A>C (p.Ile320Leu)
c.*1035A>C (n.*1035A>C)
Xg.48904769G>ACA412894006SLC35A2c.1140C>T (p.Leu380=)
c.478C>T (p.His160Tyr)
c.550C>T (p.His184Tyr)
c.702C>T
c.1224C>T (p.Leu408=)
c.1179C>T (p.Leu393=)
c.425-1304C>T
c.957C>T (p.Leu319=)
c.*1034C>T (n.*1034C>T)
Xg.48904769G>CCA412894007SLC35A2c.1140C>G (p.Leu380=)
c.478C>G (p.His160Asp)
c.550C>G (p.His184Asp)
c.702C>G
c.1224C>G (p.Leu408=)
c.1179C>G (p.Leu393=)
c.425-1304C>G
c.957C>G (p.Leu319=)
c.*1034C>G (n.*1034C>G)
Xg.48904769G>TCA412894008SLC35A2c.1140C>A (p.Leu380=)
c.478C>A (p.His160Asn)
c.550C>A (p.His184Asn)
c.702C>A
c.1224C>A (p.Leu408=)
c.1179C>A (p.Leu393=)
c.425-1304C>A
c.957C>A (p.Leu319=)
c.*1034C>A (n.*1034C>A)
 gnomAD v4
Xg.48904770A>CCA412894009SLC35A2c.1139T>G (p.Leu380Arg)
c.477T>G (p.Pro159=)
c.549T>G (p.Pro183=)
c.701T>G
c.1223T>G (p.Leu408Arg)
c.1178T>G (p.Leu393Arg)
c.425-1305T>G
c.956T>G (p.Leu319Arg)
c.*1033T>G (n.*1033T>G)
Xg.48904770A>GCA412894010SLC35A2c.1139T>C (p.Leu380Pro)
c.477T>C (p.Pro159=)
c.549T>C (p.Pro183=)
c.701T>C
c.1223T>C (p.Leu408Pro)
c.1178T>C (p.Leu393Pro)
c.425-1305T>C
c.956T>C (p.Leu319Pro)
c.*1033T>C (n.*1033T>C)
Xg.48904770A>TCA412894011SLC35A2c.1139T>A (p.Leu380His)
c.477T>A (p.Pro159=)
c.549T>A (p.Pro183=)
c.701T>A
c.1223T>A (p.Leu408His)
c.1178T>A (p.Leu393His)
c.425-1305T>A
c.956T>A (p.Leu319His)
c.*1033T>A (n.*1033T>A)
Xg.48904771G>ACA412894012SLC35A2c.1138C>T (p.Leu380Phe)
c.476C>T (p.Pro159Leu)
c.548C>T (p.Pro183Leu)
c.700C>T
c.1222C>T (p.Leu408Phe)
c.1177C>T (p.Leu393Phe)
c.425-1306C>T
c.955C>T (p.Leu319Phe)
c.*1032C>T (n.*1032C>T)
Xg.48904771G>CCA10406049SLC35A2c.1138C>G (p.Leu380Val)
c.476C>G (p.Pro159Arg)
c.548C>G (p.Pro183Arg)
c.700C>G
c.1222C>G (p.Leu408Val)
c.1177C>G (p.Leu393Val)
c.425-1306C>G
c.955C>G (p.Leu319Val)
c.*1032C>G (n.*1032C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48904771G=CA2428428767SLC35A2c.1138C= (p.Leu380=)
c.476C= (p.Pro159=)
c.548C= (p.Pro183=)
c.700C=
c.1222C= (p.Leu408=)
c.1177C= (p.Leu393=)
c.425-1306C=
c.955C= (p.Leu319=)
c.*1032C= (n.*1032C=)
Xg.48904771G>TCA412894013SLC35A2c.1138C>A (p.Leu380Ile)
c.476C>A (p.Pro159His)
c.548C>A (p.Pro183His)
c.700C>A
c.1222C>A (p.Leu408Ile)
c.1177C>A (p.Leu393Ile)
c.425-1306C>A
c.955C>A (p.Leu319Ile)
c.*1032C>A (n.*1032C>A)
Xg.48904772G>ACA412894014SLC35A2c.1137C>T (p.Asp379=)
c.475C>T (p.Pro159Ser)
c.547C>T (p.Pro183Ser)
c.699C>T
c.1221C>T (p.Asp407=)
c.1176C>T (p.Asp392=)
c.425-1307C>T
c.954C>T (p.Asp318=)
c.*1031C>T (n.*1031C>T)
 gnomAD v4
Xg.48904772G>CCA412894015SLC35A2c.1137C>G (p.Asp379Glu)
c.475C>G (p.Pro159Ala)
c.547C>G (p.Pro183Ala)
c.699C>G
c.1221C>G (p.Asp407Glu)
c.1176C>G (p.Asp392Glu)
c.425-1307C>G
c.954C>G (p.Asp318Glu)
c.*1031C>G (n.*1031C>G)
Xg.48904772G>TCA412894016SLC35A2c.1137C>A (p.Asp379Glu)
c.475C>A (p.Pro159Thr)
c.547C>A (p.Pro183Thr)
c.699C>A
c.1221C>A (p.Asp407Glu)
c.1176C>A (p.Asp392Glu)
c.425-1307C>A
c.954C>A (p.Asp318Glu)
c.*1031C>A (n.*1031C>A)
Xg.48904773T>ACA412894019SLC35A2c.1136A>T (p.Asp379Val)
c.474A>T (p.Arg158Ser)
c.546A>T (p.Arg182Ser)
c.698A>T
c.1220A>T (p.Asp407Val)
c.1175A>T (p.Asp392Val)
c.425-1308A>T
c.953A>T (p.Asp318Val)
c.*1030A>T (n.*1030A>T)
Xg.48904773T>CCA412894018SLC35A2c.1136A>G (p.Asp379Gly)
c.474A>G (p.Arg158=)
c.546A>G (p.Arg182=)
c.698A>G
c.1220A>G (p.Asp407Gly)
c.1175A>G (p.Asp392Gly)
c.425-1308A>G
c.953A>G (p.Asp318Gly)
c.*1030A>G (n.*1030A>G)
Xg.48904773T>GCA412894017SLC35A2c.1136A>C (p.Asp379Ala)
c.474A>C (p.Arg158Ser)
c.546A>C (p.Arg182Ser)
c.698A>C
c.1220A>C (p.Asp407Ala)
c.1175A>C (p.Asp392Ala)
c.425-1308A>C
c.953A>C (p.Asp318Ala)
c.*1030A>C (n.*1030A>C)
Xg.48904774C>ACA412894020SLC35A2c.1135G>T (p.Asp379Tyr)
c.473G>T (p.Arg158Ile)
c.545G>T (p.Arg182Ile)
c.697G>T
c.1219G>T (p.Asp407Tyr)
c.1174G>T (p.Asp392Tyr)
c.425-1309G>T
c.952G>T (p.Asp318Tyr)
c.*1029G>T (n.*1029G>T)
Xg.48904774C=CA2428428768SLC35A2c.1135G= (p.Asp379=)
c.473G= (p.Arg158=)
c.545G= (p.Arg182=)
c.697G=
c.1219G= (p.Asp407=)
c.1174G= (p.Asp392=)
c.425-1309G=
c.952G= (p.Asp318=)
c.*1029G= (n.*1029G=)
Xg.48904774C>GCA412894022SLC35A2c.1135G>C (p.Asp379His)
c.473G>C (p.Arg158Thr)
c.545G>C (p.Arg182Thr)
c.697G>C
c.1219G>C (p.Asp407His)
c.1174G>C (p.Asp392His)
c.425-1309G>C
c.952G>C (p.Asp318His)
c.*1029G>C (n.*1029G>C)
Xg.48904774C>TCA412894021SLC35A2c.1135G>A (p.Asp379Asn)
c.473G>A (p.Arg158Lys)
c.545G>A (p.Arg182Lys)
c.697G>A
c.1219G>A (p.Asp407Asn)
c.1174G>A (p.Asp392Asn)
c.425-1309G>A
c.952G>A (p.Asp318Asn)
c.*1029G>A (n.*1029G>A)
 dbSNP
Xg.48904775T>ACA412894023SLC35A2c.1134A>T (p.Gly378=)
c.472A>T (p.Arg158Ter)
c.544A>T (p.Arg182Ter)
c.696A>T
c.1218A>T (p.Gly406=)
c.1173A>T (p.Gly391=)
c.425-1310A>T
c.951A>T (p.Gly317=)
c.*1028A>T (n.*1028A>T)
Xg.48904775T>CCA412894024SLC35A2c.1134A>G (p.Gly378=)
c.472A>G (p.Arg158Gly)
c.544A>G (p.Arg182Gly)
c.696A>G
c.1218A>G (p.Gly406=)
c.1173A>G (p.Gly391=)
c.425-1310A>G
c.951A>G (p.Gly317=)
c.*1028A>G (n.*1028A>G)
Xg.48904775T>GCA516359835SLC35A2c.1134A>C (p.Gly378=)
c.472A>C (p.Arg158=)
c.544A>C (p.Arg182=)
c.696A>C
c.1218A>C (p.Gly406=)
c.1173A>C (p.Gly391=)
c.425-1310A>C
c.951A>C (p.Gly317=)
c.*1028A>C (n.*1028A>C)
Xg.48904776C>ACA412894025SLC35A2c.1133G>T (p.Gly378Val)
c.471G>T (p.Trp157Cys)
c.543G>T (p.Trp181Cys)
c.695G>T
c.1217G>T (p.Gly406Val)
c.1172G>T (p.Gly391Val)
c.425-1311G>T
c.950G>T (p.Gly317Val)
c.*1027G>T (n.*1027G>T)
Xg.48904776C=CA2428428769SLC35A2c.1133G= (p.Gly378=)
c.471G= (p.Trp157=)
c.543G= (p.Trp181=)
c.695G=
c.1217G= (p.Gly406=)
c.1172G= (p.Gly391=)
c.425-1311G=
c.950G= (p.Gly317=)
c.*1027G= (n.*1027G=)
Xg.48904776C>GCA329098486SLC35A2c.1133G>C (p.Gly378Ala)
c.471G>C (p.Trp157Cys)
c.543G>C (p.Trp181Cys)
c.695G>C
c.1217G>C (p.Gly406Ala)
c.1172G>C (p.Gly391Ala)
c.425-1311G>C
c.950G>C (p.Gly317Ala)
c.*1027G>C (n.*1027G>C)
 dbSNP gnomAD v4
Xg.48904776C>TCA412894026SLC35A2c.1133G>A (p.Gly378Glu)
c.471G>A (p.Trp157Ter)
c.543G>A (p.Trp181Ter)
c.695G>A
c.1217G>A (p.Gly406Glu)
c.1172G>A (p.Gly391Glu)
c.425-1311G>A
c.950G>A (p.Gly317Glu)
c.*1027G>A (n.*1027G>A)
Xg.48904777C>ACA412894027SLC35A2c.1132G>T (p.Gly378Ter)
c.470G>T (p.Trp157Leu)
c.542G>T (p.Trp181Leu)
c.694G>T
c.1216G>T (p.Gly406Ter)
c.1171G>T (p.Gly391Ter)
c.425-1312G>T
c.949G>T (p.Gly317Ter)
c.*1026G>T (n.*1026G>T)
Xg.48904777C>GCA412894028SLC35A2c.1132G>C (p.Gly378Arg)
c.470G>C (p.Trp157Ser)
c.542G>C (p.Trp181Ser)
c.694G>C
c.1216G>C (p.Gly406Arg)
c.1171G>C (p.Gly391Arg)
c.425-1312G>C
c.949G>C (p.Gly317Arg)
c.*1026G>C (n.*1026G>C)
Xg.48904777C>TCA412894029SLC35A2c.1132G>A (p.Gly378Arg)
c.470G>A (p.Trp157Ter)
c.542G>A (p.Trp181Ter)
c.694G>A
c.1216G>A (p.Gly406Arg)
c.1171G>A (p.Gly391Arg)
c.425-1312G>A
c.949G>A (p.Gly317Arg)
c.*1026G>A (n.*1026G>A)
Xg.48904778A>CCA412894030SLC35A2c.1131T>G (p.Arg377=)
c.469T>G (p.Trp157Gly)
c.541T>G (p.Trp181Gly)
c.693T>G
c.1215T>G (p.Arg405=)
c.1170T>G (p.Arg390=)
c.425-1313T>G
c.948T>G (p.Arg316=)
c.*1025T>G (n.*1025T>G)
Xg.48904778A>GCA412894031SLC35A2c.1131T>C (p.Arg377=)
c.469T>C (p.Trp157Arg)
c.541T>C (p.Trp181Arg)
c.693T>C
c.1215T>C (p.Arg405=)
c.1170T>C (p.Arg390=)
c.425-1313T>C
c.948T>C (p.Arg316=)
c.*1025T>C (n.*1025T>C)
Xg.48904778A>TCA412894032SLC35A2c.1131T>A (p.Arg377=)
c.469T>A (p.Trp157Arg)
c.541T>A (p.Trp181Arg)
c.693T>A
c.1215T>A (p.Arg405=)
c.1170T>A (p.Arg390=)
c.425-1313T>A
c.948T>A (p.Arg316=)
c.*1025T>A (n.*1025T>A)
Xg.48904779C>ACA412894033SLC35A2c.1130G>T (p.Arg377Leu)
c.468G>T (p.Pro156=)
c.540G>T (p.Pro180=)
c.692G>T
c.1214G>T (p.Arg405Leu)
c.1169G>T (p.Arg390Leu)
c.425-1314G>T
c.947G>T (p.Arg316Leu)
c.*1024G>T (n.*1024G>T)
 gnomAD v4
Xg.48904779C=CA2428428770SLC35A2c.1130G= (p.Arg377=)
c.468G= (p.Pro156=)
c.540G= (p.Pro180=)
c.692G=
c.1214G= (p.Arg405=)
c.1169G= (p.Arg390=)
c.425-1314G=
c.947G= (p.Arg316=)
c.*1024G= (n.*1024G=)
Xg.48904779C>GCA10406050SLC35A2c.1130G>C (p.Arg377Pro)
c.468G>C (p.Pro156=)
c.540G>C (p.Pro180=)
c.692G>C
c.1214G>C (p.Arg405Pro)
c.1169G>C (p.Arg390Pro)
c.425-1314G>C
c.947G>C (p.Arg316Pro)
c.*1024G>C (n.*1024G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904779C>TCA10406051SLC35A2c.1130G>A (p.Arg377His)
c.468G>A (p.Pro156=)
c.540G>A (p.Pro180=)
c.692G>A
c.1214G>A (p.Arg405His)
c.1169G>A (p.Arg390His)
c.425-1314G>A
c.947G>A (p.Arg316His)
c.*1024G>A (n.*1024G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904780G>ACA10406052SLC35A2c.1129C>T (p.Arg377Cys)
c.467C>T (p.Pro156Leu)
c.539C>T (p.Pro180Leu)
c.691C>T
c.1213C>T (p.Arg405Cys)
c.1168C>T (p.Arg390Cys)
c.425-1315C>T
c.946C>T (p.Arg316Cys)
c.*1023C>T (n.*1023C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904780G>CCA412894034SLC35A2c.1129C>G (p.Arg377Gly)
c.467C>G (p.Pro156Arg)
c.539C>G (p.Pro180Arg)
c.691C>G
c.1213C>G (p.Arg405Gly)
c.1168C>G (p.Arg390Gly)
c.425-1315C>G
c.946C>G (p.Arg316Gly)
c.*1023C>G (n.*1023C>G)
 gnomAD v4
Xg.48904780G=CA2428428771SLC35A2c.1129C= (p.Arg377=)
c.467C= (p.Pro156=)
c.539C= (p.Pro180=)
c.691C=
c.1213C= (p.Arg405=)
c.1168C= (p.Arg390=)
c.425-1315C=
c.946C= (p.Arg316=)
c.*1023C= (n.*1023C=)
Xg.48904780G>TCA412894035SLC35A2c.1129C>A (p.Arg377Ser)
c.467C>A (p.Pro156Gln)
c.539C>A (p.Pro180Gln)
c.691C>A
c.1213C>A (p.Arg405Ser)
c.1168C>A (p.Arg390Ser)
c.425-1315C>A
c.946C>A (p.Arg316Ser)
c.*1023C>A (n.*1023C>A)
Xg.48904781G>ACA412894036SLC35A2c.1128C>T (p.His376=)
c.466C>T (p.Pro156Ser)
c.538C>T (p.Pro180Ser)
c.690C>T
c.1212C>T (p.His404=)
c.1167C>T (p.His389=)
c.425-1316C>T
c.945C>T (p.His315=)
c.*1022C>T (n.*1022C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48904781G>CCA412894038SLC35A2c.1128C>G (p.His376Gln)
c.466C>G (p.Pro156Ala)
c.538C>G (p.Pro180Ala)
c.690C>G
c.1212C>G (p.His404Gln)
c.1167C>G (p.His389Gln)
c.425-1316C>G
c.945C>G (p.His315Gln)
c.*1022C>G (n.*1022C>G)
Xg.48904781G=CA2428428772SLC35A2c.1128C= (p.His376=)
c.466C= (p.Pro156=)
c.538C= (p.Pro180=)
c.690C=
c.1212C= (p.His404=)
c.1167C= (p.His389=)
c.425-1316C=
c.945C= (p.His315=)
c.*1022C= (n.*1022C=)
Xg.48904781G>TCA412894037SLC35A2c.1128C>A (p.His376Gln)
c.466C>A (p.Pro156Thr)
c.538C>A (p.Pro180Thr)
c.690C>A
c.1212C>A (p.His404Gln)
c.1167C>A (p.His389Gln)
c.425-1316C>A
c.945C>A (p.His315Gln)
c.*1022C>A (n.*1022C>A)
Xg.48904782T>ACA412894039SLC35A2c.1127A>T (p.His376Leu)
c.465A>T (p.Pro155=)
c.537A>T (p.Pro179=)
c.689A>T
c.1211A>T (p.His404Leu)
c.1166A>T (p.His389Leu)
c.425-1317A>T
c.944A>T (p.His315Leu)
c.*1021A>T (n.*1021A>T)
Xg.48904782T>CCA412894040SLC35A2c.1127A>G (p.His376Arg)
c.465A>G (p.Pro155=)
c.537A>G (p.Pro179=)
c.689A>G
c.1211A>G (p.His404Arg)
c.1166A>G (p.His389Arg)
c.425-1317A>G
c.944A>G (p.His315Arg)
c.*1021A>G (n.*1021A>G)
Xg.48904782T>GCA412894041SLC35A2c.1127A>C (p.His376Pro)
c.465A>C (p.Pro155=)
c.537A>C (p.Pro179=)
c.689A>C
c.1211A>C (p.His404Pro)
c.1166A>C (p.His389Pro)
c.425-1317A>C
c.944A>C (p.His315Pro)
c.*1021A>C (n.*1021A>C)
Xg.48904783G>ACA412894042SLC35A2c.1126C>T (p.His376Tyr)
c.464C>T (p.Pro155Leu)
c.536C>T (p.Pro179Leu)
c.688C>T
c.1210C>T (p.His404Tyr)
c.1165C>T (p.His389Tyr)
c.425-1318C>T
c.943C>T (p.His315Tyr)
c.*1020C>T (n.*1020C>T)
Xg.48904783G>CCA412894043SLC35A2c.1126C>G (p.His376Asp)
c.464C>G (p.Pro155Arg)
c.536C>G (p.Pro179Arg)
c.688C>G
c.1210C>G (p.His404Asp)
c.1165C>G (p.His389Asp)
c.425-1318C>G
c.943C>G (p.His315Asp)
c.*1020C>G (n.*1020C>G)
Xg.48904783G>TCA412894044SLC35A2c.1126C>A (p.His376Asn)
c.464C>A (p.Pro155Gln)
c.536C>A (p.Pro179Gln)
c.688C>A
c.1210C>A (p.His404Asn)
c.1165C>A (p.His389Asn)
c.425-1318C>A
c.943C>A (p.His315Asn)
c.*1020C>A (n.*1020C>A)
Xg.48904784_48904785delCA2579602953SLC35A2c.1125_1126del (p.His376ProfsTer?)
c.463_464del (p.Pro155ThrfsTer17)
c.535_536del (p.Pro179ThrfsTer18)
c.687_688del
c.535_536del (p.Pro179ThrfsTer17)
c.1209_1210del (p.His404ProfsTer?)
c.1164_1165del (p.His389ProfsTer?)
c.425-1319_425-1318del
c.942_943del (p.His315ProfsTer?)
c.*1019_*1020del (n.*1019_*1020del)
Xg.48904784G>ACA10406053SLC35A2c.1125C>T (p.Ser375=)
c.463C>T (p.Pro155Ser)
c.535C>T (p.Pro179Ser)
c.687C>T
c.1209C>T (p.Ser403=)
c.1164C>T (p.Ser388=)
c.425-1319C>T
c.942C>T (p.Ser314=)
c.*1019C>T (n.*1019C>T)
 dbSNP ExAC gnomAD v4
Xg.48904784G>CCA412894045SLC35A2c.1125C>G (p.Ser375=)
c.463C>G (p.Pro155Ala)
c.535C>G (p.Pro179Ala)
c.687C>G
c.1209C>G (p.Ser403=)
c.1164C>G (p.Ser388=)
c.425-1319C>G
c.942C>G (p.Ser314=)
c.*1019C>G (n.*1019C>G)
Xg.48904784G=CA2428428773SLC35A2c.1125C= (p.Ser375=)
c.463C= (p.Pro155=)
c.535C= (p.Pro179=)
c.687C=
c.1209C= (p.Ser403=)
c.1164C= (p.Ser388=)
c.425-1319C=
c.942C= (p.Ser314=)
c.*1019C= (n.*1019C=)
Xg.48904784G>TCA412894046SLC35A2c.1125C>A (p.Ser375=)
c.463C>A (p.Pro155Thr)
c.535C>A (p.Pro179Thr)
c.687C>A
c.1209C>A (p.Ser403=)
c.1164C>A (p.Ser388=)
c.425-1319C>A
c.942C>A (p.Ser314=)
c.*1019C>A (n.*1019C>A)
Xg.48904785G>ACA412894048SLC35A2c.1124C>T (p.Ser375Phe)
c.462C>T (p.Phe154=)
c.534C>T (p.Phe178=)
c.686C>T
c.1208C>T (p.Ser403Phe)
c.1163C>T (p.Ser388Phe)
c.425-1320C>T
c.941C>T (p.Ser314Phe)
c.*1018C>T (n.*1018C>T)
 dbSNP gnomAD v2
Xg.48904785G>CCA412894049SLC35A2c.1124C>G (p.Ser375Cys)
c.462C>G (p.Phe154Leu)
c.534C>G (p.Phe178Leu)
c.686C>G
c.1208C>G (p.Ser403Cys)
c.1163C>G (p.Ser388Cys)
c.425-1320C>G
c.941C>G (p.Ser314Cys)
c.*1018C>G (n.*1018C>G)
Xg.48904785G=CA2428428774SLC35A2c.1124C= (p.Ser375=)
c.462C= (p.Phe154=)
c.534C= (p.Phe178=)
c.686C=
c.1208C= (p.Ser403=)
c.1163C= (p.Ser388=)
c.425-1320C=
c.941C= (p.Ser314=)
c.*1018C= (n.*1018C=)
Xg.48904785G>TCA412894047SLC35A2c.1124C>A (p.Ser375Tyr)
c.462C>A (p.Phe154Leu)
c.534C>A (p.Phe178Leu)
c.686C>A
c.1208C>A (p.Ser403Tyr)
c.1163C>A (p.Ser388Tyr)
c.425-1320C>A
c.941C>A (p.Ser314Tyr)
c.*1018C>A (n.*1018C>A)
Xg.48904786A>CCA412894050SLC35A2c.1123T>G (p.Ser375Ala)
c.461T>G (p.Phe154Cys)
c.533T>G (p.Phe178Cys)
c.685T>G
c.1207T>G (p.Ser403Ala)
c.1162T>G (p.Ser388Ala)
c.425-1321T>G
c.940T>G (p.Ser314Ala)
c.*1017T>G (n.*1017T>G)
Xg.48904786A>GCA412894051SLC35A2c.1123T>C (p.Ser375Pro)
c.461T>C (p.Phe154Ser)
c.533T>C (p.Phe178Ser)
c.685T>C
c.1207T>C (p.Ser403Pro)
c.1162T>C (p.Ser388Pro)
c.425-1321T>C
c.940T>C (p.Ser314Pro)
c.*1017T>C (n.*1017T>C)
Xg.48904786A>TCA412894052SLC35A2c.1123T>A (p.Ser375Thr)
c.461T>A (p.Phe154Tyr)
c.533T>A (p.Phe178Tyr)
c.685T>A
c.1207T>A (p.Ser403Thr)
c.1162T>A (p.Ser388Thr)
c.425-1321T>A
c.940T>A (p.Ser314Thr)
c.*1017T>A (n.*1017T>A)
Xg.48904787A>CCA412894053SLC35A2c.1122T>G (p.Ser374=)
c.460T>G (p.Phe154Val)
c.532T>G (p.Phe178Val)
c.684T>G
c.1206T>G (p.Ser402=)
c.1161T>G (p.Ser387=)
c.425-1322T>G
c.939T>G (p.Ser313=)
c.*1016T>G (n.*1016T>G)
Xg.48904787A>GCA412894054SLC35A2c.1122T>C (p.Ser374=)
c.460T>C (p.Phe154Leu)
c.532T>C (p.Phe178Leu)
c.684T>C
c.1206T>C (p.Ser402=)
c.1161T>C (p.Ser387=)
c.425-1322T>C
c.939T>C (p.Ser313=)
c.*1016T>C (n.*1016T>C)
Xg.48904787A>TCA412894055SLC35A2c.1122T>A (p.Ser374=)
c.460T>A (p.Phe154Ile)
c.532T>A (p.Phe178Ile)
c.684T>A
c.1206T>A (p.Ser402=)
c.1161T>A (p.Ser387=)
c.425-1322T>A
c.939T>A (p.Ser313=)
c.*1016T>A (n.*1016T>A)
Xg.48904788G>ACA412894056SLC35A2c.1121C>T (p.Ser374Phe)
c.459C>T (p.Val153=)
c.531C>T (p.Val177=)
c.683C>T
c.1205C>T (p.Ser402Phe)
c.1160C>T (p.Ser387Phe)
c.425-1323C>T
c.938C>T (p.Ser313Phe)
c.*1015C>T (n.*1015C>T)
 COSMIC COSMIC COSMIC COSMIC
Xg.48904788G>CCA412894057SLC35A2c.1121C>G (p.Ser374Cys)
c.459C>G (p.Val153=)
c.531C>G (p.Val177=)
c.683C>G
c.1205C>G (p.Ser402Cys)
c.1160C>G (p.Ser387Cys)
c.425-1323C>G
c.938C>G (p.Ser313Cys)
c.*1015C>G (n.*1015C>G)
Xg.48904788G>TCA412894058SLC35A2c.1121C>A (p.Ser374Tyr)
c.459C>A (p.Val153=)
c.531C>A (p.Val177=)
c.683C>A
c.1205C>A (p.Ser402Tyr)
c.1160C>A (p.Ser387Tyr)
c.425-1323C>A
c.938C>A (p.Ser313Tyr)
c.*1015C>A (n.*1015C>A)
Xg.48904788_48904793delCA2579602956SLC35A2c.1116_1121del (p.Gln372_Ser374delinsHis)
c.454_459del (p.Ala152_Val153del)
c.526_531del (p.Ala176_Val177del)
c.678_683del
c.1200_1205del (p.Gln400_Ser402delinsHis)
c.1155_1160del (p.Gln385_Ser387delinsHis)
c.425-1328_425-1323del
c.933_938del (p.Gln311_Ser313delinsHis)
c.*1010_*1015del (n.*1010_*1015del)
Xg.48904789A>CCA412894059SLC35A2c.1120T>G (p.Ser374Ala)
c.458T>G (p.Val153Gly)
c.530T>G (p.Val177Gly)
c.682T>G
c.1204T>G (p.Ser402Ala)
c.1159T>G (p.Ser387Ala)
c.425-1324T>G
c.937T>G (p.Ser313Ala)
c.*1014T>G (n.*1014T>G)
Xg.48904789A>GCA412894060SLC35A2c.1120T>C (p.Ser374Pro)
c.458T>C (p.Val153Ala)
c.530T>C (p.Val177Ala)
c.682T>C
c.1204T>C (p.Ser402Pro)
c.1159T>C (p.Ser387Pro)
c.425-1324T>C
c.937T>C (p.Ser313Pro)
c.*1014T>C (n.*1014T>C)
Xg.48904789A>TCA412894061SLC35A2c.1120T>A (p.Ser374Thr)
c.458T>A (p.Val153Asp)
c.530T>A (p.Val177Asp)
c.682T>A
c.1204T>A (p.Ser402Thr)
c.1159T>A (p.Ser387Thr)
c.425-1324T>A
c.937T>A (p.Ser313Thr)
c.*1014T>A (n.*1014T>A)
Xg.48904790C>ACA10406054SLC35A2c.1119G>T (p.Leu373=)
c.457G>T (p.Val153Phe)
c.529G>T (p.Val177Phe)
c.681G>T
c.1203G>T (p.Leu401=)
c.1158G>T (p.Leu386=)
c.425-1325G>T
c.936G>T (p.Leu312=)
c.*1013G>T (n.*1013G>T)
 dbSNP ExAC gnomAD v2
Xg.48904790C=CA2428428775SLC35A2c.1119G= (p.Leu373=)
c.457G= (p.Val153=)
c.529G= (p.Val177=)
c.681G=
c.1203G= (p.Leu401=)
c.1158G= (p.Leu386=)
c.425-1325G=
c.936G= (p.Leu312=)
c.*1013G= (n.*1013G=)
Xg.48904790C>GCA412894062SLC35A2c.1119G>C (p.Leu373=)
c.457G>C (p.Val153Leu)
c.529G>C (p.Val177Leu)
c.681G>C
c.1203G>C (p.Leu401=)
c.1158G>C (p.Leu386=)
c.425-1325G>C
c.936G>C (p.Leu312=)
c.*1013G>C (n.*1013G>C)
Xg.48904790C>TCA412894063SLC35A2c.1119G>A (p.Leu373=)
c.457G>A (p.Val153Ile)
c.529G>A (p.Val177Ile)
c.681G>A
c.1203G>A (p.Leu401=)
c.1158G>A (p.Leu386=)
c.425-1325G>A
c.936G>A (p.Leu312=)
c.*1013G>A (n.*1013G>A)
Xg.48904791A>CCA412894064SLC35A2c.1118T>G (p.Leu373Arg)
c.456T>G (p.Ala152=)
c.528T>G (p.Ala176=)
c.680T>G
c.1202T>G (p.Leu401Arg)
c.1157T>G (p.Leu386Arg)
c.425-1326T>G
c.935T>G (p.Leu312Arg)
c.*1012T>G (n.*1012T>G)
Xg.48904791A>GCA412894065SLC35A2c.1118T>C (p.Leu373Pro)
c.456T>C (p.Ala152=)
c.528T>C (p.Ala176=)
c.680T>C
c.1202T>C (p.Leu401Pro)
c.1157T>C (p.Leu386Pro)
c.425-1326T>C
c.935T>C (p.Leu312Pro)
c.*1012T>C (n.*1012T>C)
 ClinVar
Xg.48904791A>TCA412894066SLC35A2c.1118T>A (p.Leu373Gln)
c.456T>A (p.Ala152=)
c.528T>A (p.Ala176=)
c.680T>A
c.1202T>A (p.Leu401Gln)
c.1157T>A (p.Leu386Gln)
c.425-1326T>A
c.935T>A (p.Leu312Gln)
c.*1012T>A (n.*1012T>A)
Xg.48904792G>ACA412894067SLC35A2c.1117C>T (p.Leu373=)
c.455C>T (p.Ala152Val)
c.527C>T (p.Ala176Val)
c.679C>T
c.1201C>T (p.Leu401=)
c.1156C>T (p.Leu386=)
c.425-1327C>T
c.934C>T (p.Leu312=)
c.*1011C>T (n.*1011C>T)
 gnomAD v4
Xg.48904792G>CCA412894068SLC35A2c.1117C>G (p.Leu373Val)
c.455C>G (p.Ala152Gly)
c.527C>G (p.Ala176Gly)
c.679C>G
c.1201C>G (p.Leu401Val)
c.1156C>G (p.Leu386Val)
c.425-1327C>G
c.934C>G (p.Leu312Val)
c.*1011C>G (n.*1011C>G)
 gnomAD v4
Xg.48904792G>TCA412894069SLC35A2c.1117C>A (p.Leu373Met)
c.455C>A (p.Ala152Asp)
c.527C>A (p.Ala176Asp)
c.679C>A
c.1201C>A (p.Leu401Met)
c.1156C>A (p.Leu386Met)
c.425-1327C>A
c.934C>A (p.Leu312Met)
c.*1011C>A (n.*1011C>A)
Xg.48904793C>ACA412894070SLC35A2c.1116G>T (p.Gln372His)
c.454G>T (p.Ala152Ser)
c.526G>T (p.Ala176Ser)
c.678G>T
c.1200G>T (p.Gln400His)
c.1155G>T (p.Gln385His)
c.425-1328G>T
c.933G>T (p.Gln311His)
c.*1010G>T (n.*1010G>T)
Xg.48904793C>GCA412894071SLC35A2c.1116G>C (p.Gln372His)
c.454G>C (p.Ala152Pro)
c.526G>C (p.Ala176Pro)
c.678G>C
c.1200G>C (p.Gln400His)
c.1155G>C (p.Gln385His)
c.425-1328G>C
c.933G>C (p.Gln311His)
c.*1010G>C (n.*1010G>C)
Xg.48904793C>TCA412894072SLC35A2c.1116G>A (p.Gln372=)
c.454G>A (p.Ala152Thr)
c.526G>A (p.Ala176Thr)
c.678G>A
c.1200G>A (p.Gln400=)
c.1155G>A (p.Gln385=)
c.425-1328G>A
c.933G>A (p.Gln311=)
c.*1010G>A (n.*1010G>A)
Xg.48904794T>ACA412894073SLC35A2c.1115A>T (p.Gln372Leu)
c.453A>T (p.Ala151=)
c.525A>T (p.Ala175=)
c.677A>T
c.1199A>T (p.Gln400Leu)
c.1154A>T (p.Gln385Leu)
c.425-1329A>T
c.932A>T (p.Gln311Leu)
c.*1009A>T (n.*1009A>T)
Xg.48904794T>CCA412894074SLC35A2c.1115A>G (p.Gln372Arg)
c.453A>G (p.Ala151=)
c.525A>G (p.Ala175=)
c.677A>G
c.1199A>G (p.Gln400Arg)
c.1154A>G (p.Gln385Arg)
c.425-1329A>G
c.932A>G (p.Gln311Arg)
c.*1009A>G (n.*1009A>G)
Xg.48904794T>GCA412894075SLC35A2c.1115A>C (p.Gln372Pro)
c.453A>C (p.Ala151=)
c.525A>C (p.Ala175=)
c.677A>C
c.1199A>C (p.Gln400Pro)
c.1154A>C (p.Gln385Pro)
c.425-1329A>C
c.932A>C (p.Gln311Pro)
c.*1009A>C (n.*1009A>C)
Xg.48904795G>ACA412894078SLC35A2c.1114C>T (p.Gln372Ter)
c.452C>T (p.Ala151Val)
c.524C>T (p.Ala175Val)
c.676C>T
c.1198C>T (p.Gln400Ter)
c.1153C>T (p.Gln385Ter)
c.425-1330C>T
c.931C>T (p.Gln311Ter)
c.*1008C>T (n.*1008C>T)
Xg.48904795G>CCA412894077SLC35A2c.1114C>G (p.Gln372Glu)
c.452C>G (p.Ala151Gly)
c.524C>G (p.Ala175Gly)
c.676C>G
c.1198C>G (p.Gln400Glu)
c.1153C>G (p.Gln385Glu)
c.425-1330C>G
c.931C>G (p.Gln311Glu)
c.*1008C>G (n.*1008C>G)
Xg.48904795G>TCA412894076SLC35A2c.1114C>A (p.Gln372Lys)
c.452C>A (p.Ala151Glu)
c.524C>A (p.Ala175Glu)
c.676C>A
c.1198C>A (p.Gln400Lys)
c.1153C>A (p.Gln385Lys)
c.425-1330C>A
c.931C>A (p.Gln311Lys)
c.*1008C>A (n.*1008C>A)
Xg.48904796_48904798delCA2693659122SLC35A2c.1112_1114del (p.Pro371del)
c.450_452del (p.Ala151del)
c.522_524del (p.Ala175del)
c.674_676del
c.1196_1198del (p.Pro399del)
c.1151_1153del (p.Pro384del)
c.425-1332_425-1330del
c.929_931del (p.Pro310del)
c.*1006_*1008del (n.*1006_*1008del)
 gnomAD v4
Xg.48904796C>ACA412894079SLC35A2c.1113G>T (p.Pro371=)
c.451G>T (p.Ala151Ser)
c.523G>T (p.Ala175Ser)
c.675G>T
c.1197G>T (p.Pro399=)
c.1152G>T (p.Pro384=)
c.425-1331G>T
c.930G>T (p.Pro310=)
c.*1007G>T (n.*1007G>T)
Xg.48904796C=CA2428428776SLC35A2c.1113G= (p.Pro371=)
c.451G= (p.Ala151=)
c.523G= (p.Ala175=)
c.675G=
c.1197G= (p.Pro399=)
c.1152G= (p.Pro384=)
c.425-1331G=
c.930G= (p.Pro310=)
c.*1007G= (n.*1007G=)
Xg.48904796C>GCA412894080SLC35A2c.1113G>C (p.Pro371=)
c.451G>C (p.Ala151Pro)
c.523G>C (p.Ala175Pro)
c.675G>C
c.1197G>C (p.Pro399=)
c.1152G>C (p.Pro384=)
c.425-1331G>C
c.930G>C (p.Pro310=)
c.*1007G>C (n.*1007G>C)
Xg.48904796C>TCA10406055SLC35A2c.1113G>A (p.Pro371=)
c.451G>A (p.Ala151Thr)
c.523G>A (p.Ala175Thr)
c.675G>A
c.1197G>A (p.Pro399=)
c.1152G>A (p.Pro384=)
c.425-1331G>A
c.930G>A (p.Pro310=)
c.*1007G>A (n.*1007G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904797G>ACA10406056SLC35A2c.1112C>T (p.Pro371Leu)
c.450C>T (p.Thr150=)
c.522C>T (p.Thr174=)
c.674C>T
c.1196C>T (p.Pro399Leu)
c.1151C>T (p.Pro384Leu)
c.425-1332C>T
c.929C>T (p.Pro310Leu)
c.*1006C>T (n.*1006C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.48904797G>CCA412894081SLC35A2c.1112C>G (p.Pro371Arg)
c.450C>G (p.Thr150=)
c.522C>G (p.Thr174=)
c.674C>G
c.1196C>G (p.Pro399Arg)
c.1151C>G (p.Pro384Arg)
c.425-1332C>G
c.929C>G (p.Pro310Arg)
c.*1006C>G (n.*1006C>G)
Xg.48904797G=CA2428428777SLC35A2c.1112C= (p.Pro371=)
c.450C= (p.Thr150=)
c.522C= (p.Thr174=)
c.674C=
c.1196C= (p.Pro399=)
c.1151C= (p.Pro384=)
c.425-1332C=
c.929C= (p.Pro310=)
c.*1006C= (n.*1006C=)
Xg.48904797G>TCA412894082SLC35A2c.1112C>A (p.Pro371Gln)
c.450C>A (p.Thr150=)
c.522C>A (p.Thr174=)
c.674C>A
c.1196C>A (p.Pro399Gln)
c.1151C>A (p.Pro384Gln)
c.425-1332C>A
c.929C>A (p.Pro310Gln)
c.*1006C>A (n.*1006C>A)
 ClinVar
Xg.48904798G>ACA412894083SLC35A2c.1111C>T (p.Pro371Ser)
c.449C>T (p.Thr150Ile)
c.521C>T (p.Thr174Ile)
c.673C>T
c.1195C>T (p.Pro399Ser)
c.1150C>T (p.Pro384Ser)
c.425-1333C>T
c.928C>T (p.Pro310Ser)
c.*1005C>T (n.*1005C>T)
 COSMIC COSMIC COSMIC COSMIC
Xg.48904798G>CCA412894084SLC35A2c.1111C>G (p.Pro371Ala)
c.449C>G (p.Thr150Ser)
c.521C>G (p.Thr174Ser)
c.673C>G
c.1195C>G (p.Pro399Ala)
c.1150C>G (p.Pro384Ala)
c.425-1333C>G
c.928C>G (p.Pro310Ala)
c.*1005C>G (n.*1005C>G)
Xg.48904798G>TCA412894085SLC35A2c.1111C>A (p.Pro371Thr)
c.449C>A (p.Thr150Asn)
c.521C>A (p.Thr174Asn)
c.673C>A
c.1195C>A (p.Pro399Thr)
c.1150C>A (p.Pro384Thr)
c.425-1333C>A
c.928C>A (p.Pro310Thr)
c.*1005C>A (n.*1005C>A)
Xg.48904799T>ACA412894086SLC35A2c.1110A>T (p.Pro370=)
c.448A>T (p.Thr150Ser)
c.520A>T (p.Thr174Ser)
c.672A>T
c.1194A>T (p.Pro398=)
c.1149A>T (p.Pro383=)
c.425-1334A>T
c.927A>T (p.Pro309=)
c.*1004A>T (n.*1004A>T)
 ClinVar
Xg.48904799T>CCA10406057SLC35A2c.1110A>G (p.Pro370=)
c.448A>G (p.Thr150Ala)
c.520A>G (p.Thr174Ala)
c.672A>G
c.1194A>G (p.Pro398=)
c.1149A>G (p.Pro383=)
c.425-1334A>G
c.927A>G (p.Pro309=)
c.*1004A>G (n.*1004A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904799T>GCA412894087SLC35A2c.1110A>C (p.Pro370=)
c.448A>C (p.Thr150Pro)
c.520A>C (p.Thr174Pro)
c.672A>C
c.1194A>C (p.Pro398=)
c.1149A>C (p.Pro383=)
c.425-1334A>C
c.927A>C (p.Pro309=)
c.*1004A>C (n.*1004A>C)
Xg.48904799T=CA2428428778SLC35A2c.1110A= (p.Pro370=)
c.448A= (p.Thr150=)
c.520A= (p.Thr174=)
c.672A=
c.1194A= (p.Pro398=)
c.1149A= (p.Pro383=)
c.425-1334A=
c.927A= (p.Pro309=)
c.*1004A= (n.*1004A=)
Xg.48904800G>ACA412894088SLC35A2c.1109C>T (p.Pro370Leu)
c.447C>T (p.Thr149=)
c.519C>T (p.Thr173=)
c.671C>T
c.1193C>T (p.Pro398Leu)
c.1148C>T (p.Pro383Leu)
c.425-1335C>T
c.926C>T (p.Pro309Leu)
c.*1003C>T (n.*1003C>T)
Xg.48904800G>CCA412894089SLC35A2c.1109C>G (p.Pro370Arg)
c.447C>G (p.Thr149=)
c.519C>G (p.Thr173=)
c.671C>G
c.1193C>G (p.Pro398Arg)
c.1148C>G (p.Pro383Arg)
c.425-1335C>G
c.926C>G (p.Pro309Arg)
c.*1003C>G (n.*1003C>G)
Xg.48904800G>TCA412894090SLC35A2c.1109C>A (p.Pro370Gln)
c.447C>A (p.Thr149=)
c.519C>A (p.Thr173=)
c.671C>A
c.1193C>A (p.Pro398Gln)
c.1148C>A (p.Pro383Gln)
c.425-1335C>A
c.926C>A (p.Pro309Gln)
c.*1003C>A (n.*1003C>A)
Xg.48904801G>ACA412894091SLC35A2c.1108C>T (p.Pro370Ser)
c.446C>T (p.Thr149Ile)
c.518C>T (p.Thr173Ile)
c.670C>T
c.1192C>T (p.Pro398Ser)
c.1147C>T (p.Pro383Ser)
c.425-1336C>T
c.925C>T (p.Pro309Ser)
c.*1002C>T (n.*1002C>T)
Xg.48904801G>CCA412894093SLC35A2c.1108C>G (p.Pro370Ala)
c.446C>G (p.Thr149Ser)
c.518C>G (p.Thr173Ser)
c.670C>G
c.1192C>G (p.Pro398Ala)
c.1147C>G (p.Pro383Ala)
c.425-1336C>G
c.925C>G (p.Pro309Ala)
c.*1002C>G (n.*1002C>G)
Xg.48904801G>TCA412894092SLC35A2c.1108C>A (p.Pro370Thr)
c.446C>A (p.Thr149Asn)
c.518C>A (p.Thr173Asn)
c.670C>A
c.1192C>A (p.Pro398Thr)
c.1147C>A (p.Pro383Thr)
c.425-1336C>A
c.925C>A (p.Pro309Thr)
c.*1002C>A (n.*1002C>A)
Xg.48904802T>ACA412894094SLC35A2c.1107A>T (p.Pro369=)
c.445A>T (p.Thr149Ser)
c.517A>T (p.Thr173Ser)
c.669A>T
c.1191A>T (p.Pro397=)
c.1146A>T (p.Pro382=)
c.425-1337A>T
c.924A>T (p.Pro308=)
c.*1001A>T (n.*1001A>T)
Xg.48904802T>CCA412894095SLC35A2c.1107A>G (p.Pro369=)
c.445A>G (p.Thr149Ala)
c.517A>G (p.Thr173Ala)
c.669A>G
c.1191A>G (p.Pro397=)
c.1146A>G (p.Pro382=)
c.425-1337A>G
c.924A>G (p.Pro308=)
c.*1001A>G (n.*1001A>G)
Xg.48904802T>GCA412894096SLC35A2c.1107A>C (p.Pro369=)
c.445A>C (p.Thr149Pro)
c.517A>C (p.Thr173Pro)
c.669A>C
c.1191A>C (p.Pro397=)
c.1146A>C (p.Pro382=)
c.425-1337A>C
c.924A>C (p.Pro308=)
c.*1001A>C (n.*1001A>C)
Xg.48904803G>ACA412894097SLC35A2c.1106C>T (p.Pro369Leu)
c.444C>T (p.Thr148=)
c.516C>T (p.Thr172=)
c.668C>T
c.1190C>T (p.Pro397Leu)
c.1145C>T (p.Pro382Leu)
c.425-1338C>T
c.923C>T (p.Pro308Leu)
c.*1000C>T (n.*1000C>T)
Xg.48904803G>CCA412894098SLC35A2c.1106C>G (p.Pro369Arg)
c.444C>G (p.Thr148=)
c.516C>G (p.Thr172=)
c.668C>G
c.1190C>G (p.Pro397Arg)
c.1145C>G (p.Pro382Arg)
c.425-1338C>G
c.923C>G (p.Pro308Arg)
c.*1000C>G (n.*1000C>G)
Xg.48904803G>TCA412894099SLC35A2c.1106C>A (p.Pro369Gln)
c.444C>A (p.Thr148=)
c.516C>A (p.Thr172=)
c.668C>A
c.1190C>A (p.Pro397Gln)
c.1145C>A (p.Pro382Gln)
c.425-1338C>A
c.923C>A (p.Pro308Gln)
c.*1000C>A (n.*1000C>A)
Xg.48904804G>ACA412894100SLC35A2c.1105C>T (p.Pro369Ser)
c.443C>T (p.Thr148Ile)
c.515C>T (p.Thr172Ile)
c.667C>T
c.1189C>T (p.Pro397Ser)
c.1144C>T (p.Pro382Ser)
c.425-1339C>T
c.922C>T (p.Pro308Ser)
c.*999C>T (n.*999C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48904804G>CCA412894101SLC35A2c.1105C>G (p.Pro369Ala)
c.443C>G (p.Thr148Ser)
c.515C>G (p.Thr172Ser)
c.667C>G
c.1189C>G (p.Pro397Ala)
c.1144C>G (p.Pro382Ala)
c.425-1339C>G
c.922C>G (p.Pro308Ala)
c.*999C>G (n.*999C>G)
Xg.48904804G=CA2428428779SLC35A2c.1105C= (p.Pro369=)
c.443C= (p.Thr148=)
c.515C= (p.Thr172=)
c.667C=
c.1189C= (p.Pro397=)
c.1144C= (p.Pro382=)
c.425-1339C=
c.922C= (p.Pro308=)
c.*999C= (n.*999C=)
Xg.48904804G>TCA412894102SLC35A2c.1105C>A (p.Pro369Thr)
c.443C>A (p.Thr148Asn)
c.515C>A (p.Thr172Asn)
c.667C>A
c.1189C>A (p.Pro397Thr)
c.1144C>A (p.Pro382Thr)
c.425-1339C>A
c.922C>A (p.Pro308Thr)
c.*999C>A (n.*999C>A)
Xg.48904805T>ACA412894104SLC35A2c.1104A>T (p.Pro368=)
c.442A>T (p.Thr148Ser)
c.514A>T (p.Thr172Ser)
c.666A>T
c.1188A>T (p.Pro396=)
c.1143A>T (p.Pro381=)
c.425-1340A>T
c.921A>T (p.Pro307=)
c.*998A>T (n.*998A>T)
Xg.48904805T>CCA412894105SLC35A2c.1104A>G (p.Pro368=)
c.442A>G (p.Thr148Ala)
c.514A>G (p.Thr172Ala)
c.666A>G
c.1188A>G (p.Pro396=)
c.1143A>G (p.Pro381=)
c.425-1340A>G
c.921A>G (p.Pro307=)
c.*998A>G (n.*998A>G)
Xg.48904805T>GCA412894103SLC35A2c.1104A>C (p.Pro368=)
c.442A>C (p.Thr148Pro)
c.514A>C (p.Thr172Pro)
c.666A>C
c.1188A>C (p.Pro396=)
c.1143A>C (p.Pro381=)
c.425-1340A>C
c.921A>C (p.Pro307=)
c.*998A>C (n.*998A>C)
Xg.48904806G>ACA412894106SLC35A2c.1103C>T (p.Pro368Leu)
c.441C>T (p.Ala147=)
c.513C>T (p.Ala171=)
c.665C>T
c.1187C>T (p.Pro396Leu)
c.1142C>T (p.Pro381Leu)
c.425-1341C>T
c.920C>T (p.Pro307Leu)
c.*997C>T (n.*997C>T)
Xg.48904806G>CCA412894107SLC35A2c.1103C>G (p.Pro368Arg)
c.441C>G (p.Ala147=)
c.513C>G (p.Ala171=)
c.665C>G
c.1187C>G (p.Pro396Arg)
c.1142C>G (p.Pro381Arg)
c.425-1341C>G
c.920C>G (p.Pro307Arg)
c.*997C>G (n.*997C>G)
Xg.48904806G>TCA412894108SLC35A2c.1103C>A (p.Pro368Gln)
c.441C>A (p.Ala147=)
c.513C>A (p.Ala171=)
c.665C>A
c.1187C>A (p.Pro396Gln)
c.1142C>A (p.Pro381Gln)
c.425-1341C>A
c.920C>A (p.Pro307Gln)
c.*997C>A (n.*997C>A)
Xg.48904807G>ACA412894109SLC35A2c.1102C>T (p.Pro368Ser)
c.440C>T (p.Ala147Val)
c.512C>T (p.Ala171Val)
c.664C>T
c.1186C>T (p.Pro396Ser)
c.1141C>T (p.Pro381Ser)
c.425-1342C>T
c.919C>T (p.Pro307Ser)
c.*996C>T (n.*996C>T)
 dbSNP
Xg.48904807G>CCA412894110SLC35A2c.1102C>G (p.Pro368Ala)
c.440C>G (p.Ala147Gly)
c.512C>G (p.Ala171Gly)
c.664C>G
c.1186C>G (p.Pro396Ala)
c.1141C>G (p.Pro381Ala)
c.425-1342C>G
c.919C>G (p.Pro307Ala)
c.*996C>G (n.*996C>G)
Xg.48904807G=CA2428428780SLC35A2c.1102C= (p.Pro368=)
c.440C= (p.Ala147=)
c.512C= (p.Ala171=)
c.664C=
c.1186C= (p.Pro396=)
c.1141C= (p.Pro381=)
c.425-1342C=
c.919C= (p.Pro307=)
c.*996C= (n.*996C=)
Xg.48904807G>TCA412894111SLC35A2c.1102C>A (p.Pro368Thr)
c.440C>A (p.Ala147Asp)
c.512C>A (p.Ala171Asp)
c.664C>A
c.1186C>A (p.Pro396Thr)
c.1141C>A (p.Pro381Thr)
c.425-1342C>A
c.919C>A (p.Pro307Thr)
c.*996C>A (n.*996C>A)
Xg.48904808C>ACA412894112SLC35A2c.1101G>T (p.Gln367His)
c.439G>T (p.Ala147Ser)
c.511G>T (p.Ala171Ser)
c.663G>T
c.1185G>T (p.Gln395His)
c.1140G>T (p.Gln380His)
c.425-1343G>T
c.918G>T (p.Gln306His)
c.*995G>T (n.*995G>T)
Xg.48904808C>GCA412894113SLC35A2c.1101G>C (p.Gln367His)
c.439G>C (p.Ala147Pro)
c.511G>C (p.Ala171Pro)
c.663G>C
c.1185G>C (p.Gln395His)
c.1140G>C (p.Gln380His)
c.425-1343G>C
c.918G>C (p.Gln306His)
c.*995G>C (n.*995G>C)
Xg.48904808C>TCA412894114SLC35A2c.1101G>A (p.Gln367=)
c.439G>A (p.Ala147Thr)
c.511G>A (p.Ala171Thr)
c.663G>A
c.1185G>A (p.Gln395=)
c.1140G>A (p.Gln380=)
c.425-1343G>A
c.918G>A (p.Gln306=)
c.*995G>A (n.*995G>A)
Xg.48904809T>ACA412894115SLC35A2c.1100A>T (p.Gln367Leu)
c.438A>T (p.Ala146=)
c.510A>T (p.Ala170=)
c.662A>T
c.1184A>T (p.Gln395Leu)
c.1139A>T (p.Gln380Leu)
c.425-1344A>T
c.917A>T (p.Gln306Leu)
c.*994A>T (n.*994A>T)
Xg.48904809T>CCA10406058SLC35A2c.1100A>G (p.Gln367Arg)
c.438A>G (p.Ala146=)
c.510A>G (p.Ala170=)
c.662A>G
c.1184A>G (p.Gln395Arg)
c.1139A>G (p.Gln380Arg)
c.425-1344A>G
c.917A>G (p.Gln306Arg)
c.*994A>G (n.*994A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904809T>GCA412894116SLC35A2c.1100A>C (p.Gln367Pro)
c.438A>C (p.Ala146=)
c.510A>C (p.Ala170=)
c.662A>C
c.1184A>C (p.Gln395Pro)
c.1139A>C (p.Gln380Pro)
c.425-1344A>C
c.917A>C (p.Gln306Pro)
c.*994A>C (n.*994A>C)
Xg.48904809T=CA2428428781SLC35A2c.1100A= (p.Gln367=)
c.438A= (p.Ala146=)
c.510A= (p.Ala170=)
c.662A=
c.1184A= (p.Gln395=)
c.1139A= (p.Gln380=)
c.425-1344A=
c.917A= (p.Gln306=)
c.*994A= (n.*994A=)
Xg.48904810G>ACA412894118SLC35A2c.1099C>T (p.Gln367Ter)
c.437C>T (p.Ala146Val)
c.509C>T (p.Ala170Val)
c.661C>T
c.1183C>T (p.Gln395Ter)
c.1138C>T (p.Gln380Ter)
c.425-1345C>T
c.916C>T (p.Gln306Ter)
c.*993C>T (n.*993C>T)
Xg.48904810G>CCA412894119SLC35A2c.1099C>G (p.Gln367Glu)
c.437C>G (p.Ala146Gly)
c.509C>G (p.Ala170Gly)
c.661C>G
c.1183C>G (p.Gln395Glu)
c.1138C>G (p.Gln380Glu)
c.425-1345C>G
c.916C>G (p.Gln306Glu)
c.*993C>G (n.*993C>G)
Xg.48904810G=CA2428428782SLC35A2c.1099C= (p.Gln367=)
c.437C= (p.Ala146=)
c.509C= (p.Ala170=)
c.661C=
c.1183C= (p.Gln395=)
c.1138C= (p.Gln380=)
c.425-1345C=
c.916C= (p.Gln306=)
c.*993C= (n.*993C=)
Xg.48904810G>TCA412894117SLC35A2c.1099C>A (p.Gln367Lys)
c.437C>A (p.Ala146Glu)
c.509C>A (p.Ala170Glu)
c.661C>A
c.1183C>A (p.Gln395Lys)
c.1138C>A (p.Gln380Lys)
c.425-1345C>A
c.916C>A (p.Gln306Lys)
c.*993C>A (n.*993C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48904811C>ACA412894120SLC35A2c.1098G>T (p.Gly366=)
c.436G>T (p.Ala146Ser)
c.508G>T (p.Ala170Ser)
c.660G>T
c.1182G>T (p.Gly394=)
c.1137G>T (p.Gly379=)
c.425-1346G>T
c.915G>T (p.Gly305=)
c.*992G>T (n.*992G>T)
Xg.48904811C>GCA412894121SLC35A2c.1098G>C (p.Gly366=)
c.436G>C (p.Ala146Pro)
c.508G>C (p.Ala170Pro)
c.660G>C
c.1182G>C (p.Gly394=)
c.1137G>C (p.Gly379=)
c.425-1346G>C
c.915G>C (p.Gly305=)
c.*992G>C (n.*992G>C)
Xg.48904811C>TCA412894122SLC35A2c.1098G>A (p.Gly366=)
c.436G>A (p.Ala146Thr)
c.508G>A (p.Ala170Thr)
c.660G>A
c.1182G>A (p.Gly394=)
c.1137G>A (p.Gly379=)
c.425-1346G>A
c.915G>A (p.Gly305=)
c.*992G>A (n.*992G>A)
 gnomAD v4
Xg.48904812C>ACA412894123SLC35A2c.1097G>T (p.Gly366Val)
c.435G>T (p.Arg145=)
c.507G>T (p.Arg169=)
c.659G>T
c.1181G>T (p.Gly394Val)
c.1136G>T (p.Gly379Val)
c.425-1347G>T
c.914G>T (p.Gly305Val)
c.*991G>T (n.*991G>T)
Xg.48904812C=CA2428428783SLC35A2c.1097G= (p.Gly366=)
c.435G= (p.Arg145=)
c.507G= (p.Arg169=)
c.659G=
c.1181G= (p.Gly394=)
c.1136G= (p.Gly379=)
c.425-1347G=
c.914G= (p.Gly305=)
c.*991G= (n.*991G=)
Xg.48904812C>GCA412894124SLC35A2c.1097G>C (p.Gly366Ala)
c.435G>C (p.Arg145=)
c.507G>C (p.Arg169=)
c.659G>C
c.1181G>C (p.Gly394Ala)
c.1136G>C (p.Gly379Ala)
c.425-1347G>C
c.914G>C (p.Gly305Ala)
c.*991G>C (n.*991G>C)
Xg.48904812C>TCA412894125SLC35A2c.1097G>A (p.Gly366Glu)
c.435G>A (p.Arg145=)
c.507G>A (p.Arg169=)
c.659G>A
c.1181G>A (p.Gly394Glu)
c.1136G>A (p.Gly379Glu)
c.425-1347G>A
c.914G>A (p.Gly305Glu)
c.*991G>A (n.*991G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48904813C>ACA412894126SLC35A2c.1096G>T (p.Gly366Trp)
c.434G>T (p.Arg145Leu)
c.506G>T (p.Arg169Leu)
c.658G>T
c.1180G>T (p.Gly394Trp)
c.1135G>T (p.Gly379Trp)
c.425-1348G>T
c.913G>T (p.Gly305Trp)
c.*990G>T (n.*990G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48904813C=CA2428428784SLC35A2c.1096G= (p.Gly366=)
c.434G= (p.Arg145=)
c.506G= (p.Arg169=)
c.658G=
c.1180G= (p.Gly394=)
c.1135G= (p.Gly379=)
c.425-1348G=
c.913G= (p.Gly305=)
c.*990G= (n.*990G=)
Xg.48904813C>GCA10406059SLC35A2c.1096G>C (p.Gly366Arg)
c.434G>C (p.Arg145Pro)
c.506G>C (p.Arg169Pro)
c.658G>C
c.1180G>C (p.Gly394Arg)
c.1135G>C (p.Gly379Arg)
c.425-1348G>C
c.913G>C (p.Gly305Arg)
c.*990G>C (n.*990G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48904813C>TCA329098571SLC35A2c.1096G>A (p.Gly366Arg)
c.434G>A (p.Arg145Gln)
c.506G>A (p.Arg169Gln)
c.658G>A
c.1180G>A (p.Gly394Arg)
c.1135G>A (p.Gly379Arg)
c.425-1348G>A
c.913G>A (p.Gly305Arg)
c.*990G>A (n.*990G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48904814G>ACA412894127SLC35A2c.1095C>T (p.Pro365=)
c.433C>T (p.Arg145Trp)
c.505C>T (p.Arg169Trp)
c.657C>T
c.1179C>T (p.Pro393=)
c.1134C>T (p.Pro378=)
c.425-1349C>T
c.912C>T (p.Pro304=)
c.*989C>T (n.*989C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.48904814G>CCA412894128SLC35A2c.1095C>G (p.Pro365=)
c.433C>G (p.Arg145Gly)
c.505C>G (p.Arg169Gly)
c.657C>G
c.1179C>G (p.Pro393=)
c.1134C>G (p.Pro378=)
c.425-1349C>G
c.912C>G (p.Pro304=)
c.*989C>G (n.*989C>G)
Xg.48904814G=CA2428428785SLC35A2c.1095C= (p.Pro365=)
c.433C= (p.Arg145=)
c.505C= (p.Arg169=)
c.657C=
c.1179C= (p.Pro393=)
c.1134C= (p.Pro378=)
c.425-1349C=
c.912C= (p.Pro304=)
c.*989C= (n.*989C=)
Xg.48904814G>TCA516359899SLC35A2c.1095C>A (p.Pro365=)
c.433C>A (p.Arg145=)
c.505C>A (p.Arg169=)
c.657C>A
c.1179C>A (p.Pro393=)
c.1134C>A (p.Pro378=)
c.425-1349C>A
c.912C>A (p.Pro304=)
c.*989C>A (n.*989C>A)
Xg.48904815G>ACA412894129SLC35A2c.1094C>T (p.Pro365Leu)
c.432C>T (p.Ser144=)
c.504C>T (p.Ser168=)
c.656C>T
c.1178C>T (p.Pro393Leu)
c.1133C>T (p.Pro378Leu)
c.425-1350C>T
c.911C>T (p.Pro304Leu)
c.*988C>T (n.*988C>T)
Xg.48904815G>CCA412894130SLC35A2c.1094C>G (p.Pro365Arg)
c.432C>G (p.Ser144=)
c.504C>G (p.Ser168=)
c.656C>G
c.1178C>G (p.Pro393Arg)
c.1133C>G (p.Pro378Arg)
c.425-1350C>G
c.911C>G (p.Pro304Arg)
c.*988C>G (n.*988C>G)
Xg.48904815G>TCA412894131SLC35A2c.1094C>A (p.Pro365His)
c.432C>A (p.Ser144=)
c.504C>A (p.Ser168=)
c.656C>A
c.1178C>A (p.Pro393His)
c.1133C>A (p.Pro378His)
c.425-1350C>A
c.911C>A (p.Pro304His)
c.*988C>A (n.*988C>A)
Xg.48904816G>ACA412894133SLC35A2c.1093C>T (p.Pro365Ser)
c.431C>T (p.Ser144Phe)
c.503C>T (p.Ser168Phe)
c.655C>T
c.1177C>T (p.Pro393Ser)
c.1132C>T (p.Pro378Ser)
c.425-1351C>T
c.910C>T (p.Pro304Ser)
c.*987C>T (n.*987C>T)
Xg.48904816G>CCA412894134SLC35A2c.1093C>G (p.Pro365Ala)
c.431C>G (p.Ser144Cys)
c.503C>G (p.Ser168Cys)
c.655C>G
c.1177C>G (p.Pro393Ala)
c.1132C>G (p.Pro378Ala)
c.425-1351C>G
c.910C>G (p.Pro304Ala)
c.*987C>G (n.*987C>G)
Xg.48904816G>TCA412894132SLC35A2c.1093C>A (p.Pro365Thr)
c.431C>A (p.Ser144Tyr)
c.503C>A (p.Ser168Tyr)
c.655C>A
c.1177C>A (p.Pro393Thr)
c.1132C>A (p.Pro378Thr)
c.425-1351C>A
c.910C>A (p.Pro304Thr)
c.*987C>A (n.*987C>A)
Xg.48904817A>CCA412894135SLC35A2c.1092T>G (p.Pro364=)
c.430T>G (p.Ser144Ala)
c.502T>G (p.Ser168Ala)
c.654T>G
c.1176T>G (p.Pro392=)
c.1131T>G (p.Pro377=)
c.425-1352T>G
c.909T>G (p.Pro303=)
c.*986T>G (n.*986T>G)
Xg.48904817A>GCA412894136SLC35A2c.1092T>C (p.Pro364=)
c.430T>C (p.Ser144Pro)
c.502T>C (p.Ser168Pro)
c.654T>C
c.1176T>C (p.Pro392=)
c.1131T>C (p.Pro377=)
c.425-1352T>C
c.909T>C (p.Pro303=)
c.*986T>C (n.*986T>C)
Xg.48904817A>TCA412894137SLC35A2c.1092T>A (p.Pro364=)
c.430T>A (p.Ser144Thr)
c.502T>A (p.Ser168Thr)
c.654T>A
c.1176T>A (p.Pro392=)
c.1131T>A (p.Pro377=)
c.425-1352T>A
c.909T>A (p.Pro303=)
c.*986T>A (n.*986T>A)
Xg.48904818G>ACA412894138SLC35A2c.1091C>T (p.Pro364Leu)
c.429C>T (p.Ala143=)
c.501C>T (p.Ala167=)
c.653C>T
c.1175C>T (p.Pro392Leu)
c.1130C>T (p.Pro377Leu)
c.425-1353C>T
c.908C>T (p.Pro303Leu)
c.*985C>T (n.*985C>T)
 dbSNP gnomAD v4
Xg.48904818G>CCA412894139SLC35A2c.1091C>G (p.Pro364Arg)
c.429C>G (p.Ala143=)
c.501C>G (p.Ala167=)
c.653C>G
c.1175C>G (p.Pro392Arg)
c.1130C>G (p.Pro377Arg)
c.425-1353C>G
c.908C>G (p.Pro303Arg)
c.*985C>G (n.*985C>G)
Xg.48904818G=CA2428428786SLC35A2c.1091C= (p.Pro364=)
c.429C= (p.Ala143=)
c.501C= (p.Ala167=)
c.653C=
c.1175C= (p.Pro392=)
c.1130C= (p.Pro377=)
c.425-1353C=
c.908C= (p.Pro303=)
c.*985C= (n.*985C=)
Xg.48904818G>TCA412894140SLC35A2c.1091C>A (p.Pro364His)
c.429C>A (p.Ala143=)
c.501C>A (p.Ala167=)
c.653C>A
c.1175C>A (p.Pro392His)
c.1130C>A (p.Pro377His)
c.425-1353C>A
c.908C>A (p.Pro303His)
c.*985C>A (n.*985C>A)
Xg.48904819G>ACA412894143SLC35A2c.1090C>T (p.Pro364Ser)
c.428C>T (p.Ala143Val)
c.500C>T (p.Ala167Val)
c.652C>T
c.1174C>T (p.Pro392Ser)
c.1129C>T (p.Pro377Ser)
c.425-1354C>T
c.907C>T (p.Pro303Ser)
c.*984C>T (n.*984C>T)
 ClinVar gnomAD v4
Xg.48904819G>CCA412894141SLC35A2c.1090C>G (p.Pro364Ala)
c.428C>G (p.Ala143Gly)
c.500C>G (p.Ala167Gly)
c.652C>G
c.1174C>G (p.Pro392Ala)
c.1129C>G (p.Pro377Ala)
c.425-1354C>G
c.907C>G (p.Pro303Ala)
c.*984C>G (n.*984C>G)
Xg.48904819G>TCA412894142SLC35A2c.1090C>A (p.Pro364Thr)
c.428C>A (p.Ala143Asp)
c.500C>A (p.Ala167Asp)
c.652C>A
c.1174C>A (p.Pro392Thr)
c.1129C>A (p.Pro377Thr)
c.425-1354C>A
c.907C>A (p.Pro303Thr)
c.*984C>A (n.*984C>A)
Xg.48904820C>ACA412894144SLC35A2c.1089G>T (p.Gln363His)
c.427G>T (p.Ala143Ser)
c.499G>T (p.Ala167Ser)
c.651G>T
c.1173G>T (p.Gln391His)
c.1128G>T (p.Gln376His)
c.425-1355G>T
c.906G>T (p.Gln302His)
c.*983G>T (n.*983G>T)
Xg.48904820C>GCA412894145SLC35A2c.1089G>C (p.Gln363His)
c.427G>C (p.Ala143Pro)
c.499G>C (p.Ala167Pro)
c.651G>C
c.1173G>C (p.Gln391His)
c.1128G>C (p.Gln376His)
c.425-1355G>C
c.906G>C (p.Gln302His)
c.*983G>C (n.*983G>C)
Xg.48904820C>TCA412894146SLC35A2c.1089G>A (p.Gln363=)
c.427G>A (p.Ala143Thr)
c.499G>A (p.Ala167Thr)
c.651G>A
c.1173G>A (p.Gln391=)
c.1128G>A (p.Gln376=)
c.425-1355G>A
c.906G>A (p.Gln302=)
c.*983G>A (n.*983G>A)
Xg.48904821T>ACA412894147SLC35A2c.1088A>T (p.Gln363Leu)
c.426A>T (p.Ala142=)
c.498A>T (p.Ala166=)
c.650A>T
c.1172A>T (p.Gln391Leu)
c.1127A>T (p.Gln376Leu)
c.425-1356A>T
c.905A>T (p.Gln302Leu)
c.*982A>T (n.*982A>T)
Xg.48904821T>CCA412894148SLC35A2c.1088A>G (p.Gln363Arg)
c.426A>G (p.Ala142=)
c.498A>G (p.Ala166=)
c.650A>G
c.1172A>G (p.Gln391Arg)
c.1127A>G (p.Gln376Arg)
c.425-1356A>G
c.905A>G (p.Gln302Arg)
c.*982A>G (n.*982A>G)
Xg.48904821T>GCA412894149SLC35A2c.1088A>C (p.Gln363Pro)
c.426A>C (p.Ala142=)
c.498A>C (p.Ala166=)
c.650A>C
c.1172A>C (p.Gln391Pro)
c.1127A>C (p.Gln376Pro)
c.425-1356A>C
c.905A>C (p.Gln302Pro)
c.*982A>C (n.*982A>C)
Xg.48904822G>ACA412894150SLC35A2c.1087C>T (p.Gln363Ter)
c.425C>T (p.Ala142Val)
c.497C>T (p.Ala166Val)
c.649C>T
c.1171C>T (p.Gln391Ter)
c.1126C>T (p.Gln376Ter)
c.425-1357C>T
c.904C>T (p.Gln302Ter)
c.*981C>T (n.*981C>T)
Xg.48904822G>CCA412894152SLC35A2c.1087C>G (p.Gln363Glu)
c.425C>G (p.Ala142Gly)
c.497C>G (p.Ala166Gly)
c.649C>G
c.1171C>G (p.Gln391Glu)
c.1126C>G (p.Gln376Glu)
c.425-1357C>G
c.904C>G (p.Gln302Glu)
c.*981C>G (n.*981C>G)
Xg.48904822G>TCA412894151SLC35A2c.1087C>A (p.Gln363Lys)
c.425C>A (p.Ala142Glu)
c.497C>A (p.Ala166Glu)
c.649C>A
c.1171C>A (p.Gln391Lys)
c.1126C>A (p.Gln376Lys)
c.425-1357C>A
c.904C>A (p.Gln302Lys)
c.*981C>A (n.*981C>A)
Xg.48904823C>ACA412894153SLC35A2c.1086G>T (p.Gln362His)
c.424G>T (p.Ala142Ser)
c.496G>T (p.Ala166Ser)
c.648G>T
c.1170G>T (p.Gln390His)
c.1125G>T (p.Gln375His)
c.425-1358G>T
c.903G>T (p.Gln301His)
c.*980G>T (n.*980G>T)
Xg.48904823C>GCA412894154SLC35A2c.1086G>C (p.Gln362His)
c.424G>C (p.Ala142Pro)
c.496G>C (p.Ala166Pro)
c.648G>C
c.1170G>C (p.Gln390His)
c.1125G>C (p.Gln375His)
c.425-1358G>C
c.903G>C (p.Gln301His)
c.*980G>C (n.*980G>C)
Xg.48904823C>TCA412894155SLC35A2c.1086G>A (p.Gln362=)
c.424G>A (p.Ala142Thr)
c.496G>A (p.Ala166Thr)
c.648G>A
c.1170G>A (p.Gln390=)
c.1125G>A (p.Gln375=)
c.425-1358G>A
c.903G>A (p.Gln301=)
c.*980G>A (n.*980G>A)
Xg.48904824T>ACA412894156SLC35A2c.1085A>T (p.Gln362Leu)
c.423A>T (p.Pro141=)
c.495A>T (p.Pro165=)
c.647A>T
c.1169A>T (p.Gln390Leu)
c.1124A>T (p.Gln375Leu)
c.425-1359A>T
c.902A>T (p.Gln301Leu)
c.*979A>T (n.*979A>T)
Xg.48904824T>CCA412894157SLC35A2c.1085A>G (p.Gln362Arg)
c.423A>G (p.Pro141=)
c.495A>G (p.Pro165=)
c.647A>G
c.1169A>G (p.Gln390Arg)
c.1124A>G (p.Gln375Arg)
c.425-1359A>G
c.902A>G (p.Gln301Arg)
c.*979A>G (n.*979A>G)
Xg.48904824T>GCA412894158SLC35A2c.1085A>C (p.Gln362Pro)
c.423A>C (p.Pro141=)
c.495A>C (p.Pro165=)
c.647A>C
c.1169A>C (p.Gln390Pro)
c.1124A>C (p.Gln375Pro)
c.425-1359A>C
c.902A>C (p.Gln301Pro)
c.*979A>C (n.*979A>C)
Xg.48904825G>ACA412894159SLC35A2c.1084C>T (p.Gln362Ter)
c.422C>T (p.Pro141Leu)
c.494C>T (p.Pro165Leu)
c.646C>T
c.1168C>T (p.Gln390Ter)
c.1123C>T (p.Gln375Ter)
c.425-1360C>T
c.901C>T (p.Gln301Ter)
c.*978C>T (n.*978C>T)
Xg.48904825G>CCA412894160SLC35A2c.1084C>G (p.Gln362Glu)
c.422C>G (p.Pro141Arg)
c.494C>G (p.Pro165Arg)
c.646C>G
c.1168C>G (p.Gln390Glu)
c.1123C>G (p.Gln375Glu)
c.425-1360C>G
c.901C>G (p.Gln301Glu)
c.*978C>G (n.*978C>G)
Xg.48904825G=CA2428428787SLC35A2c.1084C= (p.Gln362=)
c.422C= (p.Pro141=)
c.494C= (p.Pro165=)
c.646C=
c.1168C= (p.Gln390=)
c.1123C= (p.Gln375=)
c.425-1360C=
c.901C= (p.Gln301=)
c.*978C= (n.*978C=)
Xg.48904825G>TCA412894161SLC35A2c.1084C>A (p.Gln362Lys)
c.422C>A (p.Pro141Gln)
c.494C>A (p.Pro165Gln)
c.646C>A
c.1168C>A (p.Gln390Lys)
c.1123C>A (p.Gln375Lys)
c.425-1360C>A
c.901C>A (p.Gln301Lys)
c.*978C>A (n.*978C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48904826G>ACA412894162SLC35A2c.1083C>T (p.His361=)
c.421C>T (p.Pro141Ser)
c.493C>T (p.Pro165Ser)
c.645C>T
c.1167C>T (p.His389=)
c.1122C>T (p.His374=)
c.425-1361C>T
c.900C>T (p.His300=)
c.*977C>T (n.*977C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48904826G>CCA412894163SLC35A2c.1083C>G (p.His361Gln)
c.421C>G (p.Pro141Ala)
c.493C>G (p.Pro165Ala)
c.645C>G
c.1167C>G (p.His389Gln)
c.1122C>G (p.His374Gln)
c.425-1361C>G
c.900C>G (p.His300Gln)
c.*977C>G (n.*977C>G)
Xg.48904826G=CA2428428788SLC35A2c.1083C= (p.His361=)
c.421C= (p.Pro141=)
c.493C= (p.Pro165=)
c.645C=
c.1167C= (p.His389=)
c.1122C= (p.His374=)
c.425-1361C=
c.900C= (p.His300=)
c.*977C= (n.*977C=)
Xg.48904826G>TCA412894164SLC35A2c.1083C>A (p.His361Gln)
c.421C>A (p.Pro141Thr)
c.493C>A (p.Pro165Thr)
c.645C>A
c.1167C>A (p.His389Gln)
c.1122C>A (p.His374Gln)
c.425-1361C>A
c.900C>A (p.His300Gln)
c.*977C>A (n.*977C>A)
Xg.48904827T>ACA412894167SLC35A2c.1082A>T (p.His361Leu)
c.420A>T (p.Ser140=)
c.492A>T (p.Ser164=)
c.644A>T
c.1166A>T (p.His389Leu)
c.1121A>T (p.His374Leu)
c.425-1362A>T
c.899A>T (p.His300Leu)
c.*976A>T (n.*976A>T)
Xg.48904827T>CCA412894165SLC35A2c.1082A>G (p.His361Arg)
c.420A>G (p.Ser140=)
c.492A>G (p.Ser164=)
c.644A>G
c.1166A>G (p.His389Arg)
c.1121A>G (p.His374Arg)
c.425-1362A>G
c.899A>G (p.His300Arg)
c.*976A>G (n.*976A>G)
Xg.48904827T>GCA412894166SLC35A2c.1082A>C (p.His361Pro)
c.420A>C (p.Ser140=)
c.492A>C (p.Ser164=)
c.644A>C
c.1166A>C (p.His389Pro)
c.1121A>C (p.His374Pro)
c.425-1362A>C
c.899A>C (p.His300Pro)
c.*976A>C (n.*976A>C)
Xg.48904828G>ACA412894168SLC35A2c.1081C>T (p.His361Tyr)
c.419C>T (p.Ser140Leu)
c.491C>T (p.Ser164Leu)
c.643C>T
c.1165C>T (p.His389Tyr)
c.1120C>T (p.His374Tyr)
c.425-1363C>T
c.898C>T (p.His300Tyr)
c.*975C>T (n.*975C>T)
Xg.48904828G>CCA412894169SLC35A2c.1081C>G (p.His361Asp)
c.419C>G (p.Ser140Ter)
c.491C>G (p.Ser164Ter)
c.643C>G
c.1165C>G (p.His389Asp)
c.1120C>G (p.His374Asp)
c.425-1363C>G
c.898C>G (p.His300Asp)
c.*975C>G (n.*975C>G)
Xg.48904828G>TCA412894170SLC35A2c.1081C>A (p.His361Asn)
c.419C>A (p.Ser140Ter)
c.491C>A (p.Ser164Ter)
c.643C>A
c.1165C>A (p.His389Asn)
c.1120C>A (p.His374Asn)
c.425-1363C>A
c.898C>A (p.His300Asn)
c.*975C>A (n.*975C>A)
Xg.48904829A>CCA412894171SLC35A2c.1080T>G (p.Val360=)
c.418T>G (p.Ser140Ala)
c.490T>G (p.Ser164Ala)
c.642T>G
c.1164T>G (p.Val388=)
c.1119T>G (p.Val373=)
c.425-1364T>G
c.897T>G (p.Val299=)
c.*974T>G (n.*974T>G)
Xg.48904829A>GCA412894172SLC35A2c.1080T>C (p.Val360=)
c.418T>C (p.Ser140Pro)
c.490T>C (p.Ser164Pro)
c.642T>C
c.1164T>C (p.Val388=)
c.1119T>C (p.Val373=)
c.425-1364T>C
c.897T>C (p.Val299=)
c.*974T>C (n.*974T>C)
Xg.48904829A>TCA412894173SLC35A2c.1080T>A (p.Val360=)
c.418T>A (p.Ser140Thr)
c.490T>A (p.Ser164Thr)
c.642T>A
c.1164T>A (p.Val388=)
c.1119T>A (p.Val373=)
c.425-1364T>A
c.897T>A (p.Val299=)
c.*974T>A (n.*974T>A)
Xg.48904830A=CA2428428789SLC35A2c.1079T= (p.Val360=)
c.417T= (p.Arg139=)
c.489T= (p.Arg163=)
c.641T=
c.1163T= (p.Val388=)
c.1118T= (p.Val373=)
c.425-1365T=
c.896T= (p.Val299=)
c.*973T= (n.*973T=)
Xg.48904830A>CCA412894176SLC35A2c.1079T>G (p.Val360Gly)
c.417T>G (p.Arg139=)
c.489T>G (p.Arg163=)
c.641T>G
c.1163T>G (p.Val388Gly)
c.1118T>G (p.Val373Gly)
c.425-1365T>G
c.896T>G (p.Val299Gly)
c.*973T>G (n.*973T>G)
Xg.48904830A>GCA412894175SLC35A2c.1079T>C (p.Val360Ala)
c.417T>C (p.Arg139=)
c.489T>C (p.Arg163=)
c.641T>C
c.1163T>C (p.Val388Ala)
c.1118T>C (p.Val373Ala)
c.425-1365T>C
c.896T>C (p.Val299Ala)
c.*973T>C (n.*973T>C)
 dbSNP
Xg.48904830A>TCA412894174SLC35A2c.1079T>A (p.Val360Asp)
c.417T>A (p.Arg139=)
c.489T>A (p.Arg163=)
c.641T>A
c.1163T>A (p.Val388Asp)
c.1118T>A (p.Val373Asp)
c.425-1365T>A
c.896T>A (p.Val299Asp)
c.*973T>A (n.*973T>A)
Xg.48904831C>ACA412894177SLC35A2c.1078G>T (p.Val360Phe)
c.416G>T (p.Arg139Leu)
c.488G>T (p.Arg163Leu)
c.640G>T
c.1162G>T (p.Val388Phe)
c.1117G>T (p.Val373Phe)
c.425-1366G>T
c.895G>T (p.Val299Phe)
c.*972G>T (n.*972G>T)
Xg.48904831C=CA2428428790SLC35A2c.1078G= (p.Val360=)
c.416G= (p.Arg139=)
c.488G= (p.Arg163=)
c.640G=
c.1162G= (p.Val388=)
c.1117G= (p.Val373=)
c.425-1366G=
c.895G= (p.Val299=)
c.*972G= (n.*972G=)
Xg.48904831C>GCA412894178SLC35A2c.1078G>C (p.Val360Leu)
c.416G>C (p.Arg139Pro)
c.488G>C (p.Arg163Pro)
c.640G>C
c.1162G>C (p.Val388Leu)
c.1117G>C (p.Val373Leu)
c.425-1366G>C
c.895G>C (p.Val299Leu)
c.*972G>C (n.*972G>C)
 ClinVar
Xg.48904831C>TCA10406060SLC35A2c.1078G>A (p.Val360Ile)
c.416G>A (p.Arg139His)
c.488G>A (p.Arg163His)
c.640G>A
c.1162G>A (p.Val388Ile)
c.1117G>A (p.Val373Ile)
c.425-1366G>A
c.895G>A (p.Val299Ile)
c.*972G>A (n.*972G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904832G>ACA412894179SLC35A2c.1077C>T (p.Cys359=)
c.415C>T (p.Arg139Cys)
c.487C>T (p.Arg163Cys)
c.639C>T
c.1161C>T (p.Cys387=)
c.1116C>T (p.Cys372=)
c.425-1367C>T
c.894C>T (p.Cys298=)
c.*971C>T (n.*971C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48904832G>CCA412894180SLC35A2c.1077C>G (p.Cys359Trp)
c.415C>G (p.Arg139Gly)
c.487C>G (p.Arg163Gly)
c.639C>G
c.1161C>G (p.Cys387Trp)
c.1116C>G (p.Cys372Trp)
c.425-1367C>G
c.894C>G (p.Cys298Trp)
c.*971C>G (n.*971C>G)
Xg.48904832G=CA2428428791SLC35A2c.1077C= (p.Cys359=)
c.415C= (p.Arg139=)
c.487C= (p.Arg163=)
c.639C=
c.1161C= (p.Cys387=)
c.1116C= (p.Cys372=)
c.425-1367C=
c.894C= (p.Cys298=)
c.*971C= (n.*971C=)
Xg.48904832G>TCA412894181SLC35A2c.1077C>A (p.Cys359Ter)
c.415C>A (p.Arg139Ser)
c.487C>A (p.Arg163Ser)
c.639C>A
c.1161C>A (p.Cys387Ter)
c.1116C>A (p.Cys372Ter)
c.425-1367C>A
c.894C>A (p.Cys298Ter)
c.*971C>A (n.*971C>A)
 gnomAD v4
Xg.48904833C>ACA412894182SLC35A2c.1076G>T (p.Cys359Phe)
c.414G>T (p.Leu138=)
c.486G>T (p.Leu162=)
c.638G>T
c.1160G>T (p.Cys387Phe)
c.1115G>T (p.Cys372Phe)
c.425-1368G>T
c.893G>T (p.Cys298Phe)
c.*970G>T (n.*970G>T)
Xg.48904833C>GCA412894184SLC35A2c.1076G>C (p.Cys359Ser)
c.414G>C (p.Leu138=)
c.486G>C (p.Leu162=)
c.638G>C
c.1160G>C (p.Cys387Ser)
c.1115G>C (p.Cys372Ser)
c.425-1368G>C
c.893G>C (p.Cys298Ser)
c.*970G>C (n.*970G>C)
Xg.48904833C>TCA412894183SLC35A2c.1076G>A (p.Cys359Tyr)
c.414G>A (p.Leu138=)
c.486G>A (p.Leu162=)
c.638G>A
c.1160G>A (p.Cys387Tyr)
c.1115G>A (p.Cys372Tyr)
c.425-1368G>A
c.893G>A (p.Cys298Tyr)
c.*970G>A (n.*970G>A)
Xg.48904834A>CCA412894185SLC35A2c.1075T>G (p.Cys359Gly)
c.413T>G (p.Leu138Arg)
c.485T>G (p.Leu162Arg)
c.637T>G
c.1159T>G (p.Cys387Gly)
c.1114T>G (p.Cys372Gly)
c.425-1369T>G
c.892T>G (p.Cys298Gly)
c.*969T>G (n.*969T>G)
Xg.48904834A>GCA412894186SLC35A2c.1075T>C (p.Cys359Arg)
c.413T>C (p.Leu138Pro)
c.485T>C (p.Leu162Pro)
c.637T>C
c.1159T>C (p.Cys387Arg)
c.1114T>C (p.Cys372Arg)
c.425-1369T>C
c.892T>C (p.Cys298Arg)
c.*969T>C (n.*969T>C)
Xg.48904834A>TCA412894187SLC35A2c.1075T>A (p.Cys359Ser)
c.413T>A (p.Leu138Gln)
c.485T>A (p.Leu162Gln)
c.637T>A
c.1159T>A (p.Cys387Ser)
c.1114T>A (p.Cys372Ser)
c.425-1369T>A
c.892T>A (p.Cys298Ser)
c.*969T>A (n.*969T>A)
Xg.48904835G>ACA516359914SLC35A2c.1074C>T (p.Pro358=)
c.412C>T (p.Leu138=)
c.484C>T (p.Leu162=)
c.636C>T
c.1158C>T (p.Pro386=)
c.1113C>T (p.Pro371=)
c.425-1370C>T
c.891C>T (p.Pro297=)
c.*968C>T (n.*968C>T)
Xg.48904835G>CCA412894188SLC35A2c.1074C>G (p.Pro358=)
c.412C>G (p.Leu138Val)
c.484C>G (p.Leu162Val)
c.636C>G
c.1158C>G (p.Pro386=)
c.1113C>G (p.Pro371=)
c.425-1370C>G
c.891C>G (p.Pro297=)
c.*968C>G (n.*968C>G)
Xg.48904835G>TCA412894189SLC35A2c.1074C>A (p.Pro358=)
c.412C>A (p.Leu138Met)
c.484C>A (p.Leu162Met)
c.636C>A
c.1158C>A (p.Pro386=)
c.1113C>A (p.Pro371=)
c.425-1370C>A
c.891C>A (p.Pro297=)
c.*968C>A (n.*968C>A)
Xg.48904836G>ACA412894190SLC35A2c.1073C>T (p.Pro358Leu)
c.411C>T (p.Ala137=)
c.483C>T (p.Ala161=)
c.635C>T
c.1157C>T (p.Pro386Leu)
c.1112C>T (p.Pro371Leu)
c.425-1371C>T
c.890C>T (p.Pro297Leu)
c.*967C>T (n.*967C>T)
 ClinVar dbSNP gnomAD v4
Xg.48904836G>CCA412894191SLC35A2c.1073C>G (p.Pro358Arg)
c.411C>G (p.Ala137=)
c.483C>G (p.Ala161=)
c.635C>G
c.1157C>G (p.Pro386Arg)
c.1112C>G (p.Pro371Arg)
c.425-1371C>G
c.890C>G (p.Pro297Arg)
c.*967C>G (n.*967C>G)
Xg.48904836G>TCA412894192SLC35A2c.1073C>A (p.Pro358His)
c.411C>A (p.Ala137=)
c.483C>A (p.Ala161=)
c.635C>A
c.1157C>A (p.Pro386His)
c.1112C>A (p.Pro371His)
c.425-1371C>A
c.890C>A (p.Pro297His)
c.*967C>A (n.*967C>A)
Xg.48904837G>ACA412894193SLC35A2c.1072C>T (p.Pro358Ser)
c.410C>T (p.Ala137Val)
c.482C>T (p.Ala161Val)
c.634C>T
c.1156C>T (p.Pro386Ser)
c.1111C>T (p.Pro371Ser)
c.425-1372C>T
c.889C>T (p.Pro297Ser)
c.*966C>T (n.*966C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.48904837G>CCA412894194SLC35A2c.1072C>G (p.Pro358Ala)
c.410C>G (p.Ala137Gly)
c.482C>G (p.Ala161Gly)
c.634C>G
c.1156C>G (p.Pro386Ala)
c.1111C>G (p.Pro371Ala)
c.425-1372C>G
c.889C>G (p.Pro297Ala)
c.*966C>G (n.*966C>G)
Xg.48904837G=CA2428428792SLC35A2c.1072C= (p.Pro358=)
c.410C= (p.Ala137=)
c.482C= (p.Ala161=)
c.634C=
c.1156C= (p.Pro386=)
c.1111C= (p.Pro371=)
c.425-1372C=
c.889C= (p.Pro297=)
c.*966C= (n.*966C=)
Xg.48904837G>TCA412894195SLC35A2c.1072C>A (p.Pro358Thr)
c.410C>A (p.Ala137Asp)
c.482C>A (p.Ala161Asp)
c.634C>A
c.1156C>A (p.Pro386Thr)
c.1111C>A (p.Pro371Thr)
c.425-1372C>A
c.889C>A (p.Pro297Thr)
c.*966C>A (n.*966C>A)
Xg.48904838C>ACA412894197SLC35A2c.1071G>T (p.Gly357=)
c.409G>T (p.Ala137Ser)
c.481G>T (p.Ala161Ser)
c.633G>T
c.1155G>T (p.Gly385=)
c.1110G>T (p.Gly370=)
c.425-1373G>T
c.888G>T (p.Gly296=)
c.*965G>T (n.*965G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48904838C=CA2428428793SLC35A2c.1071G= (p.Gly357=)
c.409G= (p.Ala137=)
c.481G= (p.Ala161=)
c.633G=
c.1155G= (p.Gly385=)
c.1110G= (p.Gly370=)
c.425-1373G=
c.888G= (p.Gly296=)
c.*965G= (n.*965G=)
Xg.48904838C>GCA412894201SLC35A2c.1071G>C (p.Gly357=)
c.409G>C (p.Ala137Pro)
c.481G>C (p.Ala161Pro)
c.633G>C
c.1155G>C (p.Gly385=)
c.1110G>C (p.Gly370=)
c.425-1373G>C
c.888G>C (p.Gly296=)
c.*965G>C (n.*965G>C)
Xg.48904838C>TCA412894199SLC35A2c.1071G>A (p.Gly357=)
c.409G>A (p.Ala137Thr)
c.481G>A (p.Ala161Thr)
c.633G>A
c.1155G>A (p.Gly385=)
c.1110G>A (p.Gly370=)
c.425-1373G>A
c.888G>A (p.Gly296=)
c.*965G>A (n.*965G>A)
Xg.48904838_48904844delinsCCCGGAGCA2428428794SLC35A2c.1065_1071delinsCTCCGGG (p.Ala355=)
c.403_409delinsCTCCGGG (p.Leu135=)
c.475_481delinsCTCCGGG (p.Leu159=)
c.627_633delinsCTCCGGG
c.1149_1155delinsCTCCGGG (p.Ala383=)
c.1104_1110delinsCTCCGGG (p.Ala368=)
c.425-1379_425-1373delinsCTCCGGG
c.882_888delinsCTCCGGG (p.Ala294=)
c.*959_*965delinsCTCCGGG (n.*959_*965delinsCTCCGGG)
Xg.48904839C>ACA412894203SLC35A2c.1070G>T (p.Gly357Val)
c.408G>T (p.Arg136=)
c.480G>T (p.Arg160=)
c.632G>T
c.1154G>T (p.Gly385Val)
c.1109G>T (p.Gly370Val)
c.425-1374G>T
c.887G>T (p.Gly296Val)
c.*964G>T (n.*964G>T)
Xg.48904839C=CA2428428796SLC35A2c.1070G= (p.Gly357=)
c.408G= (p.Arg136=)
c.480G= (p.Arg160=)
c.632G=
c.1154G= (p.Gly385=)
c.1109G= (p.Gly370=)
c.425-1374G=
c.887G= (p.Gly296=)
c.*964G= (n.*964G=)
Xg.48904839C>GCA412894205SLC35A2c.1070G>C (p.Gly357Ala)
c.408G>C (p.Arg136=)
c.480G>C (p.Arg160=)
c.632G>C
c.1154G>C (p.Gly385Ala)
c.1109G>C (p.Gly370Ala)
c.425-1374G>C
c.887G>C (p.Gly296Ala)
c.*964G>C (n.*964G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48904839C>TCA412894206SLC35A2c.1070G>A (p.Gly357Glu)
c.408G>A (p.Arg136=)
c.480G>A (p.Arg160=)
c.632G>A
c.1154G>A (p.Gly385Glu)
c.1109G>A (p.Gly370Glu)
c.425-1374G>A
c.887G>A (p.Gly296Glu)
c.*964G>A (n.*964G>A)
Xg.48904839_48904844delCA641902148SLC35A2c.1065_1070del (p.Ser356_Gly357del)
c.403_408del (p.Leu135_Arg136del)
c.475_480del (p.Leu159_Arg160del)
c.627_632del
c.1149_1154del (p.Ser384_Gly385del)
c.1104_1109del (p.Ser369_Gly370del)
c.425-1379_425-1374del
c.882_887del (p.Ser295_Gly296del)
c.*959_*964del (n.*959_*964del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48904839_48904845delinsCCGGAGGCA2428428795SLC35A2c.1064_1070delinsCCTCCGG (p.Ala355=)
c.402_408delinsCCTCCGG (p.Arg134=)
c.474_480delinsCCTCCGG (p.Arg158=)
c.626_632delinsCCTCCGG
c.1148_1154delinsCCTCCGG (p.Ala383=)
c.1103_1109delinsCCTCCGG (p.Ala368=)
c.425-1380_425-1374delinsCCTCCGG
c.881_887delinsCCTCCGG (p.Ala294=)
c.*958_*964delinsCCTCCGG (n.*958_*964delinsCCTCCGG)
Xg.48904840C>ACA412894211SLC35A2c.1069G>T (p.Gly357Trp)
c.407G>T (p.Arg136Leu)
c.479G>T (p.Arg160Leu)
c.631G>T
c.1153G>T (p.Gly385Trp)
c.1108G>T (p.Gly370Trp)
c.425-1375G>T
c.886G>T (p.Gly296Trp)
c.*963G>T (n.*963G>T)
 gnomAD v4
Xg.48904840C=CA2428428797SLC35A2c.1069G= (p.Gly357=)
c.407G= (p.Arg136=)
c.479G= (p.Arg160=)
c.631G=
c.1153G= (p.Gly385=)
c.1108G= (p.Gly370=)
c.425-1375G=
c.886G= (p.Gly296=)
c.*963G= (n.*963G=)
Xg.48904840C>GCA10406062SLC35A2c.1069G>C (p.Gly357Arg)
c.407G>C (p.Arg136Pro)
c.479G>C (p.Arg160Pro)
c.631G>C
c.1153G>C (p.Gly385Arg)
c.1108G>C (p.Gly370Arg)
c.425-1375G>C
c.886G>C (p.Gly296Arg)
c.*963G>C (n.*963G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48904840C>TCA10406063SLC35A2c.1069G>A (p.Gly357Arg)
c.407G>A (p.Arg136Gln)
c.479G>A (p.Arg160Gln)
c.631G>A
c.1153G>A (p.Gly385Arg)
c.1108G>A (p.Gly370Arg)
c.425-1375G>A
c.886G>A (p.Gly296Arg)
c.*963G>A (n.*963G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904847_48904852dupCA641902149SLC35A2c.1064_1069dup (p.Ser356_Gly357insAlaSer)
c.402_407dup (p.Arg136_Ala137insLeuArg)
c.474_479dup (p.Arg160_Ala161insLeuArg)
c.626_631dup
c.1148_1153dup (p.Ser384_Gly385insAlaSer)
c.1103_1108dup (p.Ser369_Gly370insAlaSer)
c.425-1380_425-1375dup
c.881_886dup (p.Ser295_Gly296insAlaSer)
c.*958_*963dup (n.*958_*963dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904847_48904852delCA10406061SLC35A2c.1064_1069del (p.Ala355_Ser356del)
c.402_407del (p.Leu135_Arg136del)
c.474_479del (p.Leu159_Arg160del)
c.626_631del
c.1148_1153del (p.Ala383_Ser384del)
c.1103_1108del (p.Ala368_Ser369del)
c.425-1380_425-1375del
c.881_886del (p.Ala294_Ser295del)
c.*958_*963del (n.*958_*963del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904841G>ACA10406064SLC35A2c.1068C>T (p.Ser356=)
c.406C>T (p.Arg136Trp)
c.478C>T (p.Arg160Trp)
c.630C>T
c.1152C>T (p.Ser384=)
c.1107C>T (p.Ser369=)
c.425-1376C>T
c.885C>T (p.Ser295=)
c.*962C>T (n.*962C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904841G>CCA412894214SLC35A2c.1068C>G (p.Ser356=)
c.406C>G (p.Arg136Gly)
c.478C>G (p.Arg160Gly)
c.630C>G
c.1152C>G (p.Ser384=)
c.1107C>G (p.Ser369=)
c.425-1376C>G
c.885C>G (p.Ser295=)
c.*962C>G (n.*962C>G)
Xg.48904841G=CA2428428798SLC35A2c.1068C= (p.Ser356=)
c.406C= (p.Arg136=)
c.478C= (p.Arg160=)
c.630C=
c.1152C= (p.Ser384=)
c.1107C= (p.Ser369=)
c.425-1376C=
c.885C= (p.Ser295=)
c.*962C= (n.*962C=)
Xg.48904841G>TCA516359919SLC35A2c.1068C>A (p.Ser356=)
c.406C>A (p.Arg136=)
c.478C>A (p.Arg160=)
c.630C>A
c.1152C>A (p.Ser384=)
c.1107C>A (p.Ser369=)
c.425-1376C>A
c.885C>A (p.Ser295=)
c.*962C>A (n.*962C>A)
Xg.48904842G>ACA412894216SLC35A2c.1067C>T (p.Ser356Phe)
c.405C>T (p.Leu135=)
c.477C>T (p.Leu159=)
c.629C>T
c.1151C>T (p.Ser384Phe)
c.1106C>T (p.Ser369Phe)
c.425-1377C>T
c.884C>T (p.Ser295Phe)
c.*961C>T (n.*961C>T)
Xg.48904842G>CCA412894218SLC35A2c.1067C>G (p.Ser356Cys)
c.405C>G (p.Leu135=)
c.477C>G (p.Leu159=)
c.629C>G
c.1151C>G (p.Ser384Cys)
c.1106C>G (p.Ser369Cys)
c.425-1377C>G
c.884C>G (p.Ser295Cys)
c.*961C>G (n.*961C>G)
Xg.48904842G=CA2428428799SLC35A2c.1067C= (p.Ser356=)
c.405C= (p.Leu135=)
c.477C= (p.Leu159=)
c.629C=
c.1151C= (p.Ser384=)
c.1106C= (p.Ser369=)
c.425-1377C=
c.884C= (p.Ser295=)
c.*961C= (n.*961C=)
Xg.48904842G>TCA412894220SLC35A2c.1067C>A (p.Ser356Tyr)
c.405C>A (p.Leu135=)
c.477C>A (p.Leu159=)
c.629C>A
c.1151C>A (p.Ser384Tyr)
c.1106C>A (p.Ser369Tyr)
c.425-1377C>A
c.884C>A (p.Ser295Tyr)
c.*961C>A (n.*961C>A)
Xg.48904847_48904858dupCA2693659196SLC35A2c.1056_1067dup (p.Ser356_Gly357insAlaSerAlaSer)
c.394_405dup (p.Leu135_Arg136insCysLeuArgLeu)
c.466_477dup (p.Leu159_Arg160insCysLeuArgLeu)
c.618_629dup
c.1140_1151dup (p.Ser384_Gly385insAlaSerAlaSer)
c.1095_1106dup (p.Ser369_Gly370insAlaSerAlaSer)
c.425-1388_425-1377dup
c.873_884dup (p.Ser295_Gly296insAlaSerAlaSer)
c.*950_*961dup (n.*950_*961dup)
 gnomAD v4
Xg.48904843A>CCA412894222SLC35A2c.1066T>G (p.Ser356Ala)
c.404T>G (p.Leu135Arg)
c.476T>G (p.Leu159Arg)
c.628T>G
c.1150T>G (p.Ser384Ala)
c.1105T>G (p.Ser369Ala)
c.425-1378T>G
c.883T>G (p.Ser295Ala)
c.*960T>G (n.*960T>G)
Xg.48904843A>GCA412894224SLC35A2c.1066T>C (p.Ser356Pro)
c.404T>C (p.Leu135Pro)
c.476T>C (p.Leu159Pro)
c.628T>C
c.1150T>C (p.Ser384Pro)
c.1105T>C (p.Ser369Pro)
c.425-1378T>C
c.883T>C (p.Ser295Pro)
c.*960T>C (n.*960T>C)
Xg.48904843A>TCA412894226SLC35A2c.1066T>A (p.Ser356Thr)
c.404T>A (p.Leu135His)
c.476T>A (p.Leu159His)
c.628T>A
c.1150T>A (p.Ser384Thr)
c.1105T>A (p.Ser369Thr)
c.425-1378T>A
c.883T>A (p.Ser295Thr)
c.*960T>A (n.*960T>A)
Xg.48904844_48904845insAGGCAGCA658799741SLC35A2c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu)
c.404_405insGCCTCT (p.Leu135_Arg136insProLeu)
c.476_477insGCCTCT (p.Leu159_Arg160insProLeu)
c.628_629insGCCTCT
c.1150_1151insGCCTCT (p.Ala383_Ser384insCysLeu)
c.1105_1106insGCCTCT (p.Ala368_Ser369insCysLeu)
c.425-1378_425-1377insGCCTCT
c.883_884insGCCTCT (p.Ala294_Ser295insCysLeu)
c.*960_*961insGCCTCT (n.*960_*961insGCCTCT)
 dbSNP
Xg.48904844G>ACA412894228SLC35A2c.1065C>T (p.Ala355=)
c.403C>T (p.Leu135Phe)
c.475C>T (p.Leu159Phe)
c.627C>T
c.1149C>T (p.Ala383=)
c.1104C>T (p.Ala368=)
c.425-1379C>T
c.882C>T (p.Ala294=)
c.*959C>T (n.*959C>T)
Xg.48904844G>CCA412894233SLC35A2c.1065C>G (p.Ala355=)
c.403C>G (p.Leu135Val)
c.475C>G (p.Leu159Val)
c.627C>G
c.1149C>G (p.Ala383=)
c.1104C>G (p.Ala368=)
c.425-1379C>G
c.882C>G (p.Ala294=)
c.*959C>G (n.*959C>G)
Xg.48904844G>TCA412894231SLC35A2c.1065C>A (p.Ala355=)
c.403C>A (p.Leu135Ile)
c.475C>A (p.Leu159Ile)
c.627C>A
c.1149C>A (p.Ala383=)
c.1104C>A (p.Ala368=)
c.425-1379C>A
c.882C>A (p.Ala294=)
c.*959C>A (n.*959C>A)
Xg.48904845G>ACA412894234SLC35A2c.1064C>T (p.Ala355Val)
c.402C>T (p.Arg134=)
c.474C>T (p.Arg158=)
c.626C>T
c.1148C>T (p.Ala383Val)
c.1103C>T (p.Ala368Val)
c.425-1380C>T
c.881C>T (p.Ala294Val)
c.*958C>T (n.*958C>T)
Xg.48904845G>CCA412894236SLC35A2c.1064C>G (p.Ala355Gly)
c.402C>G (p.Arg134=)
c.474C>G (p.Arg158=)
c.626C>G
c.1148C>G (p.Ala383Gly)
c.1103C>G (p.Ala368Gly)
c.425-1380C>G
c.881C>G (p.Ala294Gly)
c.*958C>G (n.*958C>G)
Xg.48904845G>TCA412894237SLC35A2c.1064C>A (p.Ala355Asp)
c.402C>A (p.Arg134=)
c.474C>A (p.Arg158=)
c.626C>A
c.1148C>A (p.Ala383Asp)
c.1103C>A (p.Ala368Asp)
c.425-1380C>A
c.881C>A (p.Ala294Asp)
c.*958C>A (n.*958C>A)
Xg.48904846C>ACA412894238SLC35A2c.1063G>T (p.Ala355Ser)
c.401G>T (p.Arg134Leu)
c.473G>T (p.Arg158Leu)
c.625G>T
c.1147G>T (p.Ala383Ser)
c.1102G>T (p.Ala368Ser)
c.425-1381G>T
c.880G>T (p.Ala294Ser)
c.*957G>T (n.*957G>T)
Xg.48904846C=CA2428428800SLC35A2c.1063G= (p.Ala355=)
c.401G= (p.Arg134=)
c.473G= (p.Arg158=)
c.625G=
c.1147G= (p.Ala383=)
c.1102G= (p.Ala368=)
c.425-1381G=
c.880G= (p.Ala294=)
c.*957G= (n.*957G=)
Xg.48904846C>GCA412894240SLC35A2c.1063G>C (p.Ala355Pro)
c.401G>C (p.Arg134Pro)
c.473G>C (p.Arg158Pro)
c.625G>C
c.1147G>C (p.Ala383Pro)
c.1102G>C (p.Ala368Pro)
c.425-1381G>C
c.880G>C (p.Ala294Pro)
c.*957G>C (n.*957G>C)
Xg.48904846C>TCA10406065SLC35A2c.1063G>A (p.Ala355Thr)
c.401G>A (p.Arg134His)
c.473G>A (p.Arg158His)
c.625G>A
c.1147G>A (p.Ala383Thr)
c.1102G>A (p.Ala368Thr)
c.425-1381G>A
c.880G>A (p.Ala294Thr)
c.*957G>A (n.*957G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
Xg.48904847G>ACA10406067SLC35A2c.1062C>T (p.Ser354=)
c.400C>T (p.Arg134Cys)
c.472C>T (p.Arg158Cys)
c.624C>T
c.1146C>T (p.Ser382=)
c.1101C>T (p.Ser367=)
c.425-1382C>T
c.879C>T (p.Ser293=)
c.*956C>T (n.*956C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904847G>CCA412894244SLC35A2c.1062C>G (p.Ser354=)
c.400C>G (p.Arg134Gly)
c.472C>G (p.Arg158Gly)
c.624C>G
c.1146C>G (p.Ser382=)
c.1101C>G (p.Ser367=)
c.425-1382C>G
c.879C>G (p.Ser293=)
c.*956C>G (n.*956C>G)
Xg.48904847G=CA2428428801SLC35A2c.1062C= (p.Ser354=)
c.400C= (p.Arg134=)
c.472C= (p.Arg158=)
c.624C=
c.1146C= (p.Ser382=)
c.1101C= (p.Ser367=)
c.425-1382C=
c.879C= (p.Ser293=)
c.*956C= (n.*956C=)
Xg.48904847G>TCA412894246SLC35A2c.1062C>A (p.Ser354=)
c.400C>A (p.Arg134Ser)
c.472C>A (p.Arg158Ser)
c.624C>A
c.1146C>A (p.Ser382=)
c.1101C>A (p.Ser367=)
c.425-1382C>A
c.879C>A (p.Ser293=)
c.*956C>A (n.*956C>A)
Xg.48904847_48904853delinsGGAGGCACA2428428802SLC35A2c.1056_1062delinsTGCCTCC (p.Ser352=)
c.394_400delinsTGCCTCC (p.Cys132=)
c.466_472delinsTGCCTCC (p.Cys156=)
c.618_624delinsTGCCTCC
c.1140_1146delinsTGCCTCC (p.Ser380=)
c.1095_1101delinsTGCCTCC (p.Ser365=)
c.425-1388_425-1382delinsTGCCTCC
c.873_879delinsTGCCTCC (p.Ser291=)
c.*950_*956delinsTGCCTCC (n.*950_*956delinsTGCCTCC)
Xg.48904848G>ACA412894248SLC35A2c.1061C>T (p.Ser354Phe)
c.399C>T (p.Leu133=)
c.471C>T (p.Leu157=)
c.623C>T
c.1145C>T (p.Ser382Phe)
c.1100C>T (p.Ser367Phe)
c.425-1383C>T
c.878C>T (p.Ser293Phe)
c.*955C>T (n.*955C>T)
Xg.48904848G>CCA412894251SLC35A2c.1061C>G (p.Ser354Cys)
c.399C>G (p.Leu133=)
c.471C>G (p.Leu157=)
c.623C>G
c.1145C>G (p.Ser382Cys)
c.1100C>G (p.Ser367Cys)
c.425-1383C>G
c.878C>G (p.Ser293Cys)
c.*955C>G (n.*955C>G)
Xg.48904848G>TCA412894253SLC35A2c.1061C>A (p.Ser354Tyr)
c.399C>A (p.Leu133=)
c.471C>A (p.Leu157=)
c.623C>A
c.1145C>A (p.Ser382Tyr)
c.1100C>A (p.Ser367Tyr)
c.425-1383C>A
c.878C>A (p.Ser293Tyr)
c.*955C>A (n.*955C>A)
Xg.48904859_48904864dupCA641902150SLC35A2c.1056_1061dup (p.Ser354_Ala355insAlaSer)
c.394_399dup (p.Leu133_Arg134insCysLeu)
c.466_471dup (p.Leu157_Arg158insCysLeu)
c.618_623dup
c.1140_1145dup (p.Ser382_Ala383insAlaSer)
c.1095_1100dup (p.Ser367_Ala368insAlaSer)
c.425-1388_425-1383dup
c.873_878dup (p.Ser293_Ala294insAlaSer)
c.*950_*955dup (n.*950_*955dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48904859_48904864delCA10406066SLC35A2c.1056_1061del (p.Ala353_Ser354del)
c.394_399del (p.Cys132_Leu133del)
c.466_471del (p.Cys156_Leu157del)
c.618_623del
c.1140_1145del (p.Ala381_Ser382del)
c.1095_1100del (p.Ala366_Ser367del)
c.425-1388_425-1383del
c.873_878del (p.Ala292_Ser293del)
c.*950_*955del (n.*950_*955del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48904849A>CCA412894255SLC35A2c.1060T>G (p.Ser354Ala)
c.398T>G (p.Leu133Arg)
c.470T>G (p.Leu157Arg)
c.622T>G
c.1144T>G (p.Ser382Ala)
c.1099T>G (p.Ser367Ala)
c.425-1384T>G
c.877T>G (p.Ser293Ala)
c.*954T>G (n.*954T>G)
Xg.48904849A>GCA412894260SLC35A2c.1060T>C (p.Ser354Pro)
c.398T>C (p.Leu133Pro)
c.470T>C (p.Leu157Pro)
c.622T>C
c.1144T>C (p.Ser382Pro)
c.1099T>C (p.Ser367Pro)
c.425-1384T>C
c.877T>C (p.Ser293Pro)
c.*954T>C (n.*954T>C)
Xg.48904849A>TCA412894258SLC35A2c.1060T>A (p.Ser354Thr)
c.398T>A (p.Leu133His)
c.470T>A (p.Leu157His)
c.622T>A
c.1144T>A (p.Ser382Thr)
c.1099T>A (p.Ser367Thr)
c.425-1384T>A
c.877T>A (p.Ser293Thr)
c.*954T>A (n.*954T>A)
Xg.48904850G>ACA412894262SLC35A2c.1059C>T (p.Ala353=)
c.397C>T (p.Leu133Phe)
c.469C>T (p.Leu157Phe)
c.621C>T
c.1143C>T (p.Ala381=)
c.1098C>T (p.Ala366=)
c.425-1385C>T
c.876C>T (p.Ala292=)
c.*953C>T (n.*953C>T)
Xg.48904850G>CCA412894264SLC35A2c.1059C>G (p.Ala353=)
c.397C>G (p.Leu133Val)
c.469C>G (p.Leu157Val)
c.621C>G
c.1143C>G (p.Ala381=)
c.1098C>G (p.Ala366=)
c.425-1385C>G
c.876C>G (p.Ala292=)
c.*953C>G (n.*953C>G)
Xg.48904850G>TCA412894266SLC35A2c.1059C>A (p.Ala353=)
c.397C>A (p.Leu133Ile)
c.469C>A (p.Leu157Ile)
c.621C>A
c.1143C>A (p.Ala381=)
c.1098C>A (p.Ala366=)
c.425-1385C>A
c.876C>A (p.Ala292=)
c.*953C>A (n.*953C>A)
Xg.48904851G>ACA412894268SLC35A2c.1058C>T (p.Ala353Val)
c.396C>T (p.Cys132=)
c.468C>T (p.Cys156=)
c.620C>T
c.1142C>T (p.Ala381Val)
c.1097C>T (p.Ala366Val)
c.425-1386C>T
c.875C>T (p.Ala292Val)
c.*952C>T (n.*952C>T)
Xg.48904851G>CCA412894269SLC35A2c.1058C>G (p.Ala353Gly)
c.396C>G (p.Cys132Trp)
c.468C>G (p.Cys156Trp)
c.620C>G
c.1142C>G (p.Ala381Gly)
c.1097C>G (p.Ala366Gly)
c.425-1386C>G
c.875C>G (p.Ala292Gly)
c.*952C>G (n.*952C>G)
Xg.48904851G>TCA412894272SLC35A2c.1058C>A (p.Ala353Asp)
c.396C>A (p.Cys132Ter)
c.468C>A (p.Cys156Ter)
c.620C>A
c.1142C>A (p.Ala381Asp)
c.1097C>A (p.Ala366Asp)
c.425-1386C>A
c.875C>A (p.Ala292Asp)
c.*952C>A (n.*952C>A)
Xg.48904852C>ACA412894274SLC35A2c.1057G>T (p.Ala353Ser)
c.395G>T (p.Cys132Phe)
c.467G>T (p.Cys156Phe)
c.619G>T
c.1141G>T (p.Ala381Ser)
c.1096G>T (p.Ala366Ser)
c.425-1387G>T
c.874G>T (p.Ala292Ser)
c.*951G>T (n.*951G>T)
Xg.48904852C>GCA412894276SLC35A2c.1057G>C (p.Ala353Pro)
c.395G>C (p.Cys132Ser)
c.467G>C (p.Cys156Ser)
c.619G>C
c.1141G>C (p.Ala381Pro)
c.1096G>C (p.Ala366Pro)
c.425-1387G>C
c.874G>C (p.Ala292Pro)
c.*951G>C (n.*951G>C)
Xg.48904852C>TCA412894278SLC35A2c.1057G>A (p.Ala353Thr)
c.395G>A (p.Cys132Tyr)
c.467G>A (p.Cys156Tyr)
c.619G>A
c.1141G>A (p.Ala381Thr)
c.1096G>A (p.Ala366Thr)
c.425-1387G>A
c.874G>A (p.Ala292Thr)
c.*951G>A (n.*951G>A)
Xg.48904853A=CA2428428803SLC35A2c.1056T= (p.Ser352=)
c.394T= (p.Cys132=)
c.466T= (p.Cys156=)
c.618T=
c.1140T= (p.Ser380=)
c.1095T= (p.Ser365=)
c.425-1388T=
c.873T= (p.Ser291=)
c.*950T= (n.*950T=)
Xg.48904853A>CCA412894280SLC35A2c.1056T>G (p.Ser352=)
c.394T>G (p.Cys132Gly)
c.466T>G (p.Cys156Gly)
c.618T>G
c.1140T>G (p.Ser380=)
c.1095T>G (p.Ser365=)
c.425-1388T>G
c.873T>G (p.Ser291=)
c.*950T>G (n.*950T>G)
Xg.48904853A>GCA10406068SLC35A2c.1056T>C (p.Ser352=)
c.394T>C (p.Cys132Arg)
c.466T>C (p.Cys156Arg)
c.618T>C
c.1140T>C (p.Ser380=)
c.1095T>C (p.Ser365=)
c.425-1388T>C
c.873T>C (p.Ser291=)
c.*950T>C (n.*950T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48904853A>TCA412894283SLC35A2c.1056T>A (p.Ser352=)
c.394T>A (p.Cys132Ser)
c.466T>A (p.Cys156Ser)
c.618T>A
c.1140T>A (p.Ser380=)
c.1095T>A (p.Ser365=)
c.425-1388T>A
c.873T>A (p.Ser291=)
c.*950T>A (n.*950T>A)

Number of alleles fetched